C. Has

发表

Faculty of 1000 evaluation for Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Cristina Has, C. Has, 2018 .

Predominance of Staphylococcus correlates with wound burden and disease activity in dystrophic epidermolysis bullosa: a prospective case-control study.

C. Has, A. Künstner, Antonia Reimer-Taschenbrecker, 2022, The Journal of investigative dermatology.

Skin fragility, renal malformation and interstitial lung disease due to compound heterozygous ITGA3 mutations

W. Sondermann, J. Fischer, C. Has, 2021, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes

J. Fischer, C. Has, 2018, Experimental dermatology.

Absence of the Integrin α3 Subunit Induces an Activated Phenotype in Human Keratinocytes.

M. Boerries, H. Busch, C. Has, 2017, The Journal of investigative dermatology.

Focal adhesions in the skin: lessons learned from skin fragility disorders

C. Has, Yinghong He, 2017, European Journal of Dermatology.

Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa.

C. Has, M. Balasubramanian, Yinghong He, 2016, The Journal of investigative dermatology.

Junctional Epidermolysis Bullosa with Renal and Respiratory Involvement: Integrin α[Alpha]3 Mutations

C. Has, L. Bruckner-Tuderman, 2015 .

Disorders of the cutaneous basement membrane zone--the paradigm of epidermolysis bullosa.

C. Has, L. Bruckner-Tuderman, 2014, Matrix biology : journal of the International Society for Matrix Biology.

Integrin α3 mutations with kidney, lung, and skin disease.

Y. Anikster, F. Hildebrandt, V. Vega-Warner, 2012, The New England journal of medicine.

Natural history of growth and anaemia in children with epidermolysis bullosa: a retrospective cohort study

C. Has, F. Schauer, A. Reimer, 2020, The British journal of dermatology.

UV-B-induced cutaneous inflammation and prospects for antioxidant treatment in Kindler syndrome.

T. Brummer, C. Has, L. Bruckner-Tuderman, 2016, Human Molecular Genetics.

Large Deletions Targeting the Triple-Helical Domain of Collagen VII Lead to Mild Acral Dominant Dystrophic Epidermolysis Bullosa.

C. Has, J. Kohlhase, I. Hausser, 2017, The Journal of investigative dermatology.

Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.

C. Has, J. Kohlhase, L. Bruckner-Tuderman, 2006, The Journal of investigative dermatology.

The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation

J. Höhfeld, R. Leube, C. Has, 2010, Human mutation.

Progress Towards Treatment and Cure of Epidermolysis Bullosa: Summary of the DEBRA International Research Symposium EB2015

J. Uitto, J. McGrath, A. Christiano, 2015, The Journal of investigative dermatology.

Role of kindlin-2 in fibroblast functions: implications for wound healing.

C. Has, V. Schacht, L. Bruckner-Tuderman, 2011, The Journal of investigative dermatology.

PORCN mutations in focal dermal hypoplasia: coping with lethality

K. Grzeschik, K. Prescott, R. Happle, 2009, Human Mutation.

Kindler syndrome, an orphan disease of cell/matrix adhesion in the skin – molecular genetics and therapeutic opportunities

J. Uitto, C. Has, H. Vahidnezhad, 2016 .

Kindlin-1 and Its Role in Kindler Syndrome

C. Has, 2015 .

Laminin 332 in junctional epidermolysis bullosa

C. Has, L. Bruckner-Tuderman, D. Kiritsi, 2013, Cell adhesion & migration.

Chapter 147 – Epidermolysis Bullosa

C. Has, L. Bruckner-Tuderman, 2013 .

Mosaicism in the skin: the importance of mild or minimal skin lesions.

C. Has, 2011, Archives of dermatology.

Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies

T. Jakob, C. Has, L. Bruckner-Tuderman, 2015, The British journal of dermatology.

APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa

E. Purdom, K. Tsai, E. Collisson, 2018, Science Translational Medicine.

Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases

C. Bodemer, C. Sălăvăstru, N. Bellon, 2020, Orphanet Journal of Rare Diseases.

CRISPR/Cas9-Mediated In Situ Correction of LAMB3 Gene in Keratinocytes Derived from a Junctional Epidermolysis Bullosa Patient.

M. del Río, F. Larcher, F. Cocchiarella, 2018, Molecular therapy : the journal of the American Society of Gene Therapy.

Induction of phenotype modifying cytokines by FERMT1 mutations

T. Kurz, M. Boerries, H. Busch, 2011, Human mutation.

Biglycan expression in the melanoma microenvironment promotes invasiveness via increased tissue stiffness inducing integrin-β1 expression

M. Idzko, M. Boerries, H. Busch, 2017, Oncotarget.

Disorders Caused by Genetic Mosaicism.

U. Felbor, U. Moog, C. Has, 2020, Deutsches Arzteblatt international.

C-terminal Truncation Impairs Glycosylation of Transmembrane Collagen XVII and Leads to Intracellular Accumulation*

K. Tasanen, C. Has, Claus-Werner Franzke, 2006, Journal of Biological Chemistry.

Esophageal carcinoma in severe recessive dystrophic epidermolysis bullosa—an underestimated complication?

C. Has, Antonia Reimer-Taschenbrecker, F. Meiss, 2021, Journal of the European Academy of Dermatology and Venereology : JEADV.

HPV‐5‐associated cutaneous squamous cell carcinoma in situ in poikiloderma with neutropenia

C. Has, S. Silling, A. Kreuter, 2021, Clinical and experimental dermatology.

The "Kelch" Surprise: KLHL24, a New Player in the Pathogenesis of Skin Fragility.

C. Has, 2017, The Journal of investigative dermatology.

Phased‐array of microcoils allows MR microscopy of ex vivo human skin samples at 9.4 T

J. Hennig, J. Korvink, O. Gruschke, 2015, Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging.

Kindlin-1 Is a Phosphoprotein Involved in Regulation of Polarity, Proliferation, and Motility of Epidermal Keratinocytes*

U. Schlötzer-Schrehardt, C. Herz, C. Has, 2006, Journal of Biological Chemistry.

Targeting epidermal lipids for treatment of Mendelian disorders of cornification

R. Happle, C. Has, F. Schauer, 2014, Orphanet Journal of Rare Diseases.

Description of the natural course and clinical manifestations of ichthyosis with confetti caused by a novel KRT10 mutation

P. Itin, C. Has, B. Burger, 2012, The British journal of dermatology.

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients

J. Fischer, R. Betz, A. Irvine, 2021, Genes.

Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity.

C. Has, J. Kohlhase, L. Bruckner-Tuderman, 2011, Human molecular genetics.

Consistency of the Proteome in Primary Human Keratinocytes With Respect to Gender, Age, and Skin Localization*

M. Boerries, H. Busch, J. Dengjel, 2013, Molecular & Cellular Proteomics.

Epidermolysis Bullosa and Kindler Syndrome

C. Has, J. Mellerio, A. Martinez, 2019 .

Clinical Practice Guidelines for Epidermolysis Bullosa Laboratory Diagnosis

C. Has, G. Zambruno, M. Escámez, 2019 .

An unusual type of telangiectatic naevus with underlying and surrounding dilated veins: report of four cases

R. Happle, C. Has, R. Fölster-Holst, 2019, Journal of the European Academy of Dermatology and Venereology : JEADV.

Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex

J. R. McMillan, M. Akiyama, H. Shimizu, 2010, Human mutation.

Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

C. Bodemer, J. Uitto, J. McGrath, 2020, The British journal of dermatology.

Molecular genetic assays for inherited epidermolysis bullosa.

C. Has, 2011, Clinics in dermatology.

Comparative quantitation of proteome alterations induced by aging or immortalization in primary human fibroblasts and keratinocytes for clinical applications.

M. Boerries, J. Dengjel, C. Gretzmeier, 2010, Molecular bioSystems.

Proposal for a 6‐step approach for differential diagnosis of neonatal erythroderma

C. Bodemer, M. van Gijn, V. Sigurdsson, 2022, Journal of the European Academy of Dermatology and Venereology : JEADV.

Epidermolysis bullosa simplex ogna revisited.

C. Has, J. Kohlhase, L. Bruckner-Tuderman, 2013, The Journal of investigative dermatology.

A case of mosaicism in ectodermal dysplasia–skin fragility syndrome

R. Happle, C. Has, A. Torrelo, 2017, The British journal of dermatology.

A Plakophilin-1 Gene Mutation in an Egyptian Family with Ectodermal Dysplasia-Skin Fragility Syndrome

C. Has, E. Abdalla, 2014, Molecular Syndromology.

Update on diagnosis and therapy of inherited epidermolysis bullosa

C. Has, J. Kern, 2008 .

Type 1 segmental Galli-Galli disease resulting from a previously unreported keratin 5 mutation.

P. Itin, R. Happle, C. Has, 2012, The Journal of investigative dermatology.

Epidermolysis Bullosa

J. McGrath, I. Chapple, C. Has, 2020, Braun-Falco´s Dermatology.

Desmoplakin mutations with palmoplantar keratoderma, woolly hair and cardiomyopathy.

C. Has, R. Cosgarea, L. Bruckner-Tuderman, 2015, Acta dermato-venereologica.

Acantholytic Forms of Epidermolysis Bullosa

C. Has, M. Jonkman, D. Kiritsi, 2015 .

Inherited Bullous Diseases

C. Has, L. Bruckner-Tuderman, 2010 .

Advances in understanding the molecular basis of skin fragility

C. Has, 2018, F1000Research.

Blaschko line acne on pre‐existent hypomelanosis reflecting a mosaic FGFR2 mutation

R. Happle, C. Has, D. Kiritsi, 2015, The British journal of dermatology.

Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations To the

T. Jakob, J. Fischer, C. Has, 2014 .

Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome.

U. Seedorf, C. Has, L. Bruckner-Tuderman, 2002, The Journal of investigative dermatology.

The Conradi-Hünermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism.

C. Has, D. Donnai, L. Bruckner-Tuderman, 2000, Human molecular genetics.

Combined anti‐inflammatory and low‐dose antiproliferative therapy for squamous cell carcinomas in recessive dystrophic epidermolysis bullosa

C. Has, A. Reimer, L. Bruckner-Tuderman, 2020, Journal of the European Academy of Dermatology and Venereology : JEADV.

Assessment of the risk and characterization of non-melanoma skin cancer in Kindler syndrome: study of a series of 91 patients

M. del Río, P. Itin, J. Uitto, 2019, Orphanet journal of rare diseases.

Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa–Associated Squamous Cell Carcinoma

J. McGrath, A. Hovnanian, M. Prisco, 2019, Clinical Cancer Research.

Effect of small molecule eRF3 degraders on premature termination codon readthrough

M. Roberge, S. Hosseini-Farahabadi, A. Baradaran‐Heravi, 2021, Nucleic acids research.

FERMT1 promoter mutations in patients with Kindler syndrome

L. Levati, C. Has, G. Zambruno, 2015, Clinical genetics.

Genetic analysis of factor V Leiden in a family with history of thrombosis and venous leg ulcers

C. Has, L. Procopciuc, G. Jebeleanu, 2000, Journal of cellular and molecular medicine.

Kindlin-2 Mediates Mechanical Activation of Cardiac Myofibroblasts

B. Hinz, S. Clément, B. Wehrle-Haller, 2020, Cells.

Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020

J. Uitto, C. Has, A. South, 2020, Molecular Diagnosis & Therapy.

Chronic tissue damage: a common pathomechanism of genodermatoses

C. Has, 2019, The British journal of dermatology.

Hereditäre Photodermatosen

C. Has, M. Berneburg, J. Frank, 2006, Der Hautarzt.

Integrin α3 negative podocytes: A gene expression study

Y. He, C. Has, L. Frommherz, 2022, Matrix biology plus.

Kindlin-1 and -2 have overlapping functions in epithelial cells implications for phenotype modification.

C. Has, L. Bruckner-Tuderman, Yinghong He, 2011, The American journal of pathology.

Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa.

J. Uitto, J. McGrath, M. Prisco, 2017, The Journal of investigative dermatology.

enhances premature termination codon read-through in COL7A1 and expression of full length type VII collagen: potential therapy for recessive dystrophic epidermolysis bullosa

J. Uitto, J. McGrath, M. Prisco, 2017 .

Mosaicism in the skin: lumping or splitting?

C. Has, 2017, The British journal of dermatology.

Secukinumab for the treatment of SAM syndrome associated with desmoglein‐1 deficiency

C. Has, L. Frommherz, C. Schempp, 2020, The British journal of dermatology.

Phenotypic spectrum of epidermolysis bullosa associated with α6β4 integrin mutations

A. Sieron, C. Has, J. Kohlhase, 2013, The British journal of dermatology.

Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa

C. Has, J. Kohlhase, L. Bruckner-Tuderman, 2011, Journal of Medical Genetics.

Integra®-Dermal Regeneration Template and Split-Thickness Skin Grafting: A Therapy Approach to Correct Aplasia Cutis Congenita and Epidermolysis Bullosa in Carmi Syndrome

H. Kutzner, C. Has, I. Hausser, 2018, Dermatology and Therapy.

A case of junctional epidermolysis bullosa with prurigo‐like lesions and reduction of collagen XVII and filaggrin

J. Ring, S. Weidinger, C. Has, 2013, The British journal of dermatology.

Collagen XVII.

C. Has, J. Kern, 2010, Dermatologic clinics.

The Conradi-Hünermann-Happle syndrome is caused by mutations in the gene that encodes a 8- 7 sterol isomerase and is biochemically related to the CHILD syndrome.

C. Has, H. Traupe, 2000, European journal of dermatology : EJD.

Target-sequence Capture and High Throughput Sequencing Identify a De novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris.

T. Jakob, J. Fischer, C. Has, 2016, Acta dermato-venereologica.

Molecular diagnostics in dermatology

C. Has, 2022, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

A multistep approach to the diagnosis of rare genodermatoses

C. Has, V. Oji, I. Tantcheva‐poór, 2016, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Sustained Need for High-Dose Zinc Supplementation in Children With Acrodermatitis Enteropathica

R. Rossi, H. Schneider, C. Has, 2018, Clinical pediatrics.

Induction of senescence pathways in Kindler syndrome primary keratinocytes

E. Dellambra, C. Has, M. Teson, 2013, The British journal of dermatology.

Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history

M. del Río, P. Itin, J. Fischer, 2011, Human mutation.

Chronic colitis due to an epithelial barrier defect: the role of kindlin‐1 isoforms

E. Haan, C. Herz, O. Opitz, 2007, The Journal of pathology.

Resurfacing CO2 laser treatment of linear verrucous epidermal nevus.

C. Has, J. Michel, V. Has, 2001, European journal of dermatology : EJD.

Update on Genetic Conditions Affecting the Skin and the Kidneys

C. Has, A. Reimer, Yinghong He, 2018, Front. Pediatr..

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.

E. Bauer, H. Shimizu, J. Uitto, 2014, Journal of the American Academy of Dermatology.

A monoallelic two-hit mechanism in PLCD1 explains the genetic pathogenesis of hereditary trichilemmal cyst formation.

J. Fischer, T. Eichmann, C. Has, 2019, The Journal of investigative dermatology.

Renal-skin syndromes

C. Has, Yinghong He, 2017, Cell and Tissue Research.

Epidermolysis bullosa pruriginosa due to a glycine substitution mutation in the COL7A1-gene.

M. Schaller, T. Biedermann, M. Röcken, 2006, Acta dermato-venereologica.

Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII.

K. Tasanen, T. Hurskainen, C. Has, 2005, The Journal of investigative dermatology.

Kidney-Urinary Tract Involvement in Intermediate Junctional Epidermolysis Bullosa.

C. Has, A. Miernik, A. Nyström, 2022, JAMA dermatology.

Plantar involvement correlates with obesity, pain and impaired mobility in epidermolysis bullosa simplex: a retrospective cohort study

J. Fischer, C. Has, Antonia Reimer-Taschenbrecker, 2021, Journal of the European Academy of Dermatology and Venereology : JEADV.

Prognostic assessment and management of a patient with Carmi syndrome. A case report

O. Muensterer, C. Has, C. Ginghinǎ, 2021, International journal of surgery case reports.

Network epidermolysis bullosa: molecular pathomechanisms and novel therapeutic approaches

C. Has, L. Bruckner-Tuderman, A. Volz, 2007, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone.

J. Uitto, C. Has, L. Bruckner-Tuderman, 2018, Matrix biology : journal of the International Society for Matrix Biology.

Epidemiology of inherited epidermolysis bullosa in Germany

H. Schneider, J. Fischer, C. Has, 2022, Journal of the European Academy of Dermatology and Venereology : JEADV.

Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy

E. Dellambra, E. Candi, V. Cianfanelli, 2021, Human molecular genetics.

Molecular basis of inherited skin-blistering disorders, and therapeutic implications

C. Has, M. Aumailley, L. Bruckner-Tuderman, 2006, Expert Reviews in Molecular Medicine.

Betulin-Based Oleogel to Improve Wound Healing in Dystrophic Epidermolysis Bullosa: A Prospective Controlled Proof-of-Concept Study

C. Has, C. Schempp, D. Kiritsi, 2017, Dermatology research and practice.

Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine

C. Has, R. Cosgarea, Yinghong He, 2019, Front. Med..

Acromelanosis Albo-Punctata: A Distinct Inherited Dermatosis with Acral Spotty Dyspigmentation without Systemic Involvement

P. Itin, R. Happle, C. Has, 2012, Dermatology.

Epidermal Basement Membrane in Health and Disease.

C. Has, A. Nyström, 2015, Current topics in membranes.

Altered Notch Signaling in Dowling-Degos Disease: Additional Mutations in POGLUT1 and Further Insights into Disease Pathogenesis.

F. B. Basmanav, M. Leverkus, R. Betz, 2019, The Journal of investigative dermatology.

Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4

D. Mitter, J. Fischer, A. Irvine, 2019, Human mutation.

Genetic Blistering Diseases

C. Has, A. Patrizi, I. Neri, 2021, Atlas of Dermatology, Dermatopathology and Venereology.

Effect of DNA repair host factors on temozolomide or dacarbazine melanoma treatment in Caucasians

R. Gutzmer, M. Kunz, M. Schirmer, 2009, Pharmacogenetics and genomics.

High rate of self‐improving phenotypes in children with non‐syndromic congenital ichthyosis: case series from south‐western Germany

J. Fischer, C. Has, Antonia Reimer-Taschenbrecker, 2021, Journal of the European Academy of Dermatology and Venereology : JEADV.

Molecular Heterogeneity of Blistering Disorders: The Paradigm of Epidermolysis Bullosa.

C. Has, L. Bruckner-Tuderman, 2012, The Journal of investigative dermatology.

Oral Manifestations in Inherited Epidermolysis Bullosa

C. Has, Antonia Reimer-Taschenbrecker, Camila Paredes, 2021, Diseases of the Oral Mucosa.

Palmoplantar keratodermas: clinical and genetic aspects

C. Has, K. Technau-Hafsi, 2016, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome.

C. Has, L. Bruckner-Tuderman, Cristina Cobzaru, 2012, The Journal of investigative dermatology.

Conradi–Hünermann–Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects)

R. Happle, C. Has, L. Bruckner-Tuderman, 2012, The British journal of dermatology.

MEND Syndrome: A Case Report with Scanning Electron Microscopy Findings of the Collodion Membrane.

C. Has, H. D. de Almeida, G. Rampon, 2017, Acta dermato-venereologica.

Profound immunodeficiency with severe skin disease explained by concomitant novel CARMIL2 and PLEC1 loss-of-function mutations.

S. Ehl, M. Heeg, C. Has, 2019, Clinical immunology.

Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome.

J. Weissenbach, M. Lathrop, J. Prud'homme, 2003, Human molecular genetics.

Case Report: Diagnostic and Therapeutic Challenges in Severe Mechanobullous Epidermolysis Bullosa Acquisita

M. Kunz, J. Fischer, C. Has, 2022, Frontiers in Immunology.

KLHL16 Degrades Epidermal Keratins.

C. Has, T. Magin, Fanny Büchau, 2018, The Journal of investigative dermatology.

A unique LAMB3 splice‐site mutation with founder effect from the Balkans causes lethal epidermolysis bullosa in several European countries

C. Has, S. Kárpáti, F. Petit, 2016, The British journal of dermatology.

Modulation of the efficacy of temozolomide and dacarbazine melanoma treatment by DNA-repair factors in vivo and in vitro.

R. Gutzmer, M. Kunz, C. Has, 2009, International journal of clinical pharmacology and therapeutics.

Phenotypic and genetic spectrum of incontinentia pigmenti – a large case series

C. Has, Stefanie Hübner, L. Weibel, 2021, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Biologic therapy targeting IL‐17 ameliorates a case of congenital ichthyosiform cornification disorder

J. Fischer, C. Has, C. Schempp, 2018, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Therapies for inherited skin fragility disorders

C. Has, D. Kiritsi, 2015, Experimental dermatology.

Collagen XVII and Its Role in Junctional Epidermolysis Bullosa

C. Has, L. Bruckner-Tuderman, 2015 .

Practical management of epidermolysis bullosa: consensus clinical position statement from the European Reference Network for Rare Skin Diseases

C. Bodemer, C. Sălăvăstru, C. Has, 2021, Journal of the European Academy of Dermatology and Venereology : JEADV.

Aberrant splicing as potential modifier of the phenotype of junctional epidermolysis bullosa

H. Schneider, E. Hohenester, C. Has, 2020, Journal of the European Academy of Dermatology and Venereology : JEADV.

Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.

J. McGrath, C. Has, G. Zambruno, 2006, The Journal of investigative dermatology.

Poikiloderma with neutropenia: a novel C16orf57 mutation and clinical diagnostic criteria

P. Itin, C. Has, L. Bruckner-Tuderman, 2010, The British journal of dermatology.

Four hypotrichosis families with mutations in the gene LSS presenting with and without neurodevelopmental phenotypes

M. Geyer, F. B. Basmanav, R. Betz, 2021, American journal of medical genetics. Part A.

Under‐recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations

J. McGrath, C. Has, J. Mellerio, 2014, The British journal of dermatology.

A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases.

C. Has, J. Kohlhase, L. Bruckner-Tuderman, 2015, The Journal of investigative dermatology.

Verrucous carcinoma in epidermolysis bullosa simplex is possibly associated with a novel mutation in the keratin 5 gene

C. Has, T. Magin, L. Bruckner-Tuderman, 2012, The British journal of dermatology.

Confirmation of psoriasis susceptibility loci on chromosome 6p21 and 20p13 in French families.

S. Heath, E. Sobel, M. Lathrop, 2007, The Journal of investigative dermatology.

Rothmund–Thomson syndrome type 1 caused by biallelic ANAPC1 gene mutations

C. Has, B. Zirn, K. Alt, 2021, Skin health and disease.

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.

J. Uitto, J. McGrath, A. Kariminejad, 2019, Matrix biology : journal of the International Society for Matrix Biology.

Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa

C. Has, G. Zambruno, P. Akker, 2019, The British journal of dermatology.

Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.

M. Boerries, H. Busch, K. Tasanen, 2016, American journal of human genetics.

Biallelic KRT5 mutations in epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out".

J. Uitto, J. McGrath, A. Kariminejad, 2019, Matrix biology : journal of the International Society for Matrix Biology.

Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases.

R. Boldrini, M. Tartaglia, G. Scuvera, 2019, Acta Dermato-Venereologica.

Burnlike scars: A sign suggestive of KLHL24‐related epidermolysis bullosa simplex

C. Chiaverini, C. Has, J. Lacour, 2018, Pediatric dermatology.

Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy.

B. Rebolledo-Jaramillo, A. Paller, S. Duchatelet, 2019, The Journal of investigative dermatology.

Research Techniques Made Simple: Immunofluorescence Antigen Mapping in Epidermolysis Bullosa.

C. Has, Yinghong He, 2016, The Journal of investigative dermatology.

Epidermolysis bullosa hereditaria

J. Fischer, C. Has, 2019, medizinische genetik.

Molecular pathology of the basement membrane zone in heritable blistering diseases:: The paradigm of epidermolysis bullosa.

J. Uitto, C. Has, L. Bruckner-Tuderman, 2017, Matrix biology : journal of the International Society for Matrix Biology.

Monoallelic Large Intragenic KRT5 Deletions Account for Genetically Unsolved Cases of Epidermolysis Bullosa Simplex.

B. Hartmann, C. Has, J. Kohlhase, 2017, The Journal of investigative dermatology.

Genotype, Clinical Course, and Therapeutic Decision Making in 76 Infants with Severe Generalized Junctional Epidermolysis Bullosa.

H. Schneider, C. Has, S. Söder, 2016, The Journal of investigative dermatology.

The genetics of skin fragility.

C. Has, L. Bruckner-Tuderman, 2014, Annual review of genomics and human genetics.

A homozygous p.Leu813Pro gain-of-function NLRP1 variant causes phenotypes of different severity in two siblings.

Kenneth Lay, J. Fischer, C. Has, 2022, The British journal of dermatology.

Dystroglycan in skin and cutaneous cells: beta-subunit is shed from the cell surface.

U. Schlötzer-Schrehardt, R. Fässler, C. Has, 2004, The Journal of investigative dermatology.

Editorial: Skin Blistering Diseases

K. Amber, D. Murrell, C. Has, 2019, Front. Med..

Hemidesmosomes: how much plakins do they need?

C. Has, 2016, Experimental dermatology.

Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex.

C. Has, Yinghong He, J. Leppert, 2017, Acta dermato-venereologica.

Disruption of ERBB2IP is not associated with dystrophic epidermolysis bullosa in both father and son carrying a balanced 5;13 translocation.

K. Kutsche, C. Has, L. Bruckner-Tuderman, 2005, The Journal of investigative dermatology.

Molecular dermatology comes of age.

C. Has, C. Sitaru, 2013, Methods in molecular biology.

RhoA activation by CNFy restores cell–cell adhesion in kindlin‐2‐deficient keratinocytes

J. Dengjel, C. Has, L. Bruckner-Tuderman, 2014, The Journal of pathology.

Postzygotic HRAS mutation in heterochromia of straight scalp hair

R. Happle, J. Fischer, C. Has, 2019, The British journal of dermatology.

Epithelial and Mesenchymal Cell Biology Kindlin-1 Is Required for RhoGTPase-Mediated Lamellipodia Formation in Keratinocytes

C. Herz, C. Has, M. Aumailley, 2010 .

Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype

T. Krieg, C. Has, L. Bruckner-Tuderman, 2010, The British journal of dermatology.

Alitretinoin in punctate palmoplantar keratoderma

J. Fischer, C. Has, J. Kohlhase, 2019, The British journal of dermatology.

Novel and recurrent AAGAB mutations: clinical variability and molecular consequences.

T. Jakob, C. Has, L. Bruckner-Tuderman, 2013, The Journal of investigative dermatology.

Palmoplantar keratodermas : clinical and genetic aspects Summary

C. Has, K. Technau-Hafsi, 2016 .

Multiple facets of desmoglein 1 mutations

C. Has, 2018, The British journal of dermatology.

Molecular and diagnostic aspects of genetic skin fragility.

C. Has, L. Bruckner-Tuderman, 2006, Journal of dermatological science.

Junctional epidermolysis bullosa with LAMB3 splice-site mutations.

K. Tasanen, N. Kokkonen, C. Has, 2015, Acta dermato-venereologica.

Oral manifestations as the main feature of late‐onset recessive dystrophic epidermolysis bullosa

J. Fischer, C. Has, F. Schauer, 2018, Journal of the European Academy of Dermatology and Venereology : JEADV.

Peeling Skin Disorders: A Paradigm for Skin Desquamation.

C. Has, 2018, The Journal of investigative dermatology.

Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.

C. Has, Claus-Werner Franzke, J. Kohlhase, 2010, The Journal of investigative dermatology.

Acral Peeling Skin Syndrome Resembling Epidermolysis Bullosa Simplex in a 10-Month-Old Boy

C. Has, L. Bruckner-Tuderman, I. Yordanova, 2013, Case Reports in Dermatology.

Kinase inhibition by PKC412 prevents epithelial sheet damage in autosomal dominant epidermolysis bullosa simplex via keratin and cell contact stabilization.

M. Omary, C. Has, T. Magin, 2022, The Journal of investigative dermatology.

Characterization of amino acid substitutions and deletions in the kindlin-1 FERM domain: relevance for precision medicine.

C. Has, Yinghong He, M. Valari, 2022, The Journal of investigative dermatology.

Faculty of 1000 evaluation for Extracellular cleavage of collagen XVII is essential for correct cutaneous basement membrane formation.

C. Has, 2018 .

Combinatorial Omics Analysis Reveals Perturbed Lysosomal Homeostasis in Collagen VII-deficient Keratinocytes*

T. Reinheckel, R. Backofen, J. Dengjel, 2018, Molecular & Cellular Proteomics.

Single Amino Acid Deletion in Kindlin-1 Results in Partial Protein Degradation Which Can Be Rescued by Chaperone Treatment.

J. Dengjel, C. Has, Kerstin Thriene, 2016, The Journal of investigative dermatology.

Natural history of Kindler syndrome and propensity for skin cancer – case report and literature review

C. Has, S. Vassileva, Yinghong He, 2018, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Severe skin fragility with postnatal lethal outcome due to a biallelic KRT5 mutation

C. Has, A. Livaoglu, Şule Altıner, 2020, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Epidermolysis bullosa simplex–generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype‐phenotype correlation and in silico modeling analysis

A. Hovnanian, Leah Lalor, K. Tasanen, 2018, Pediatric dermatology.

The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.

J. Fischer, C. Has, F. Schauer, 2018, Acta dermato-venereologica.

Mild Clinical Phenotype of Kindler Syndrome Associated with Late Diagnosis and Skin Cancer

P. Itin, C. Has, L. Bruckner-Tuderman, 2010, Dermatology.

A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome.

C. Herz, C. Has, J. Kohlhase, 2008, Journal of dermatological science.

Congenital bullous poikiloderma (Kindler syndrome) – new mutation

C. Has, P. Lehmann, L. Lennartz, 2012, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Kindler syndrome: a rare case report from Greece

S. Georgiou, C. Has, D. Kiritsi, 2019, Oxford medical case reports.

A novel mutation in the FERMT1 gene in Turkish siblings with Kindler syndrome

C. Has, M. Borlu, R. Fölster-Holst, 2016, Journal of the European Academy of Dermatology and Venereology.

Oxidative stress and mitochondrial dysfunction in Kindler syndrome

J. García-Verdugo, M. del Río, F. Larcher, 2014, Orphanet Journal of Rare Diseases.

Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.

M. del Río, Marta García, María José Escamez, 2014, The Journal of investigative dermatology.

The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations

Morris A Swertz, Cristina Has, Trebor Rengaw, 2011, Human mutation.

Kindler-Syndrom

C. Has, 2009, Der Hautarzt.

Novel and recurrent KIND1 mutations in two patients with Kindler syndrome and severe mucosal involvement.

C. Herz, C. Has, L. Bruckner-Tuderman, 2007, Acta dermato-venereologica.

A novel nonsense mutation in Kindler syndrome.

C. Has, L. Bruckner-Tuderman, 2004, The Journal of investigative dermatology.

Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination.

R. Happle, C. Has, L. Bruckner-Tuderman, 2012, The Journal of clinical investigation.

C‐terminally truncated kindlin‐1 leads to abnormal adhesion and migration of keratinocytes

C. Herz, S. Ussar, C. Has, 2008, The British journal of dermatology.

Forty‐two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort

C. Has, S. Emmert, L. Bruckner-Tuderman, 2009, The British journal of dermatology.

A case of Kindler syndrome with severe esophageal stenosis

Y. Kiniwa, C. Has, R. Okuyama, 2015, International journal of dermatology.

Kindler syndrome with severe mucosal involvement in childhood

C. Has, N. Parmar, C. V. Krishna, 2014, Clinical and experimental dermatology.

Epidemiology of inherited epidermolysis bullosa in Romania and genotype–phenotype correlations in patients with dystrophic epidermolysis bullosa

C. Has, R. Cosgarea, S. Șenilă, 2015, Journal of the European Academy of Dermatology and Venereology : JEADV.

Epidermolysis bullosa

C. Has, L. Bruckner-Tuderman, Pylorusatresie Plektin, 2011, Der Hautarzt.

Natural history and clinical outcome of junctional epidermolysis bullosa generalized intermediate due to a LAMA3 mutation

H. Schneider, C. Has, F. Schauer, 2018, The British journal of dermatology.

Short Communication Kindlin-1 and -2 Have Overlapping Functions in

Leena Bruckner-Tuderman, Yinghong He, Philipp R. Esser, 2011 .

Recurring Staphylococcal Scalded Skin Syndrome‐like Bullous Mastocytosis: The Utility of Cytodiagnosis and the Rapid Regression with Steroids

C. Has, F. Cambazard, L. David, 2002, Pediatric dermatology.

Amino acid substitution in the C-terminal domain of collagen XVII reduces laminin-332 interaction causing mild skin fragility with atrophic scarring.

C. Has, Claus-Werner Franzke, Célimène Galiger, 2019, Matrix biology : journal of the International Society for Matrix Biology.

Mouse models for dominant dystrophic epidermolysis bullosa (DDEB) carrying common human point mutations recapitulate the human disease.

K. Pang, Blake R. C. Smith, G. Varigos, 2021, Disease models & mechanisms.

Update Genodermatosen

C. Has, A. Schwieger-Briel, 2017, hautnah dermatologie.

[Syndromes with skin fragility].

C. Has, A. Reimer, 2019, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.

Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome.

C. Has, Yinghong He, C. Pazzagli, 2015, Human molecular genetics.

The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.

M. Simpson, P. Itin, J. McGrath, 2014, The Journal of investigative dermatology.

Lipoid proteinosis: Novel ECM1 pathogenic variants and intrafamilial variability in four unrelated Arab families

J. Fischer, C. Has, E. Abdalla, 2022, Pediatric dermatology.

Extending the phenotypic spectrum associated with mosaicism for GJB2 mutations

R. Happle, J. Fischer, C. Has, 2019, British Journal of Dermatology.

Selected genodermatoses – Status quo and future prospects

R. Betz, C. Has, J. Frank, 2023, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function

J. Fischer, C. Has, A. Vahlquist, 2017, The British journal of dermatology.

Constitutional absence of epithelial integrin α3 impacts the composition of the cellular microenvironment of ILNEB keratinocytes.

M. Boerries, H. Busch, J. Dengjel, 2018, Matrix biology : journal of the International Society for Matrix Biology.

[Sjogren-Larsson syndrome: two cases with delayed diagnosis].

J. Antoine, R. Wanders, C. Has, 2002, Annales de medecine interne.

Amino acid duplication in the coiled‐coil structure of collagen XVII alters its maturation and trimerization causing mild junctional epidermolysis bullosa

C. Has, Claus-Werner Franzke, Jasmin K. Kroeger, 2017, Human molecular genetics.

Oxidative stress and mitochondrial dysfunction in

J. García-Verdugo, F. Larcher, Marta García, 2014 .

Variable Outcome of Immunotherapy in Advanced Multiple Cutaneous Squamous Cell Carcinomas in Two Patients with Recessive Dystrophic Epidermolysis Bullosa

M. Boerries, C. Has, F. Meiss, 2023, Acta dermato-venereologica.

302 Molecular and mutational signatures of squamous cell carcinomas in epidermolysis bullosa

M. Boerries, C. Has, A. Reimer, 2019, Journal of Investigative Dermatology.

Extensive postzygotic mosaicism for a novel keratin 10 mutation in epidermolytic ichthyosis.

R. Happle, C. Has, J. Kohlhase, 2014, Acta dermato-venereologica.

Amino acid substitution in the cysteine rich region of the integrin β4 subunit causes late onset mild junctional epidermolysis bullosa without extracutaneous involvement.

J. Fischer, C. Has, P. Esser, 2023, The Journal of investigative dermatology.

Understanding the Potential Promise and Pitfalls of Intravenous Gentamicin as a Therapy for Epidermolysis Bullosa.

C. Has, M. Bolling, A. Bruckner, 2022, JAMA dermatology.

Read-through for nonsense mutations in type XVII collagen deficient junctional epidermolysis bullosa.

M. Roberge, C. Has, E. Chacón-Solano, 2021, The Journal of investigative dermatology.

Multidisciplinary care of epidermolysis bullosa during the COVID-19 pandemic—Consensus: Recommendations by an international panel of experts

C. Bodemer, J. Uitto, E. Sprecher, 2020, Journal of the American Academy of Dermatology.

A COL7A1 variant leading to in‐frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa

C. Has, L. Weibel, A. Schwieger-Briel, 2015, The British journal of dermatology.

Cell‐based therapies for epidermolysis bullosa – from bench to bedside

J. Uitto, C. Has, L. Bruckner-Tuderman, 2012, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn

L. French, M. Schaller, E. Guenova, 2019, Acta dermato-venereologica.

A novel IKBKG mutation in a patient with incontinentia pigmenti and features of hepatic ciliopathy

T. Müller, C. Has, A. Baican, 2018, The Australasian journal of dermatology.

The mysteries of mosaicism: phenotypic variability in a family with incontinentia pigmenti

C. Has, A. Michos, D. Kiritsi, 2016, European Journal of Dermatology.

Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations

C. Has, L. Bruckner-Tuderman, J. Kohlhase, 2008, The British journal of dermatology.

Flightless I, a contributing factor to skin blistering in Kindler syndrome patients?

C. Has, Z. Kopecki, A. Cowin, 2020, Journal of cutaneous pathology.

Successful treatment of Pachyonychia congenita with Rosuvastatin

C. Has, L. Frommherz, 2020, Journal of the European Academy of Dermatology and Venereology : JEADV.

Incontinentia pigmenti in a newborn with a novel nonsense mutation in the NEMO gene

C. Has, L. Bruckner-Tuderman, A. Volz, 2007, The British journal of dermatology.

Novel keratin 14 mutations in patients with severe recessive epidermolysis bullosa simplex.

Yow-Ren Chang, C. Has, J. Kohlhase, 2006, The Journal of investigative dermatology.

Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations.

C. Has, J. Kohlhase, L. Bruckner-Tuderman, 2014, The Journal of investigative dermatology.

Molecular heterogeneity of blistering disorders: the paradigm of epidermolysis bullosa.

C. Has, L. Bruckner-Tuderman, 2012, Journal of Investigative Dermatology.

Kindler syndrome in a patient with colitis and primary sclerosing cholangitis: coincidence or association?

C. Has, L. Soares-de-Almeida, A. R. Travassos, 2018, Dermatology Online Journal.

Molecular therapies for epidermolysis bullosa.

C. Has, D. Kiritsi, 2013, Giornale italiano di dermatologia e venereologia : organo ufficiale, Societa italiana di dermatologia e sifilografia.

Late‐onset inversa recessive dystrophic epidermolysis bullosa caused by glycine substitutions in collagen type VII

H. Gollnick, M. Leverkus, C. Has, 2011, The British journal of dermatology.

A childhood subepidermal autoimmune bullous disease resembling mechanobullous epidermolysis bullosa acquisita

M. Leverkus, C. Has, H. Pas, 2015, The British journal of dermatology.

An Adult Patient with a Rare Subform of Recessive Dystrophic Epidermolysis Bullosa Inversa (Gedde-Dahl)

T. Giner, E. Bröcker, M. Goebeler, 2010 .

Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome

S. Grünert, J. Fischer, C. Has, 2021, Genes.

Whole-exome sequencing in patients with ichthyosis reveals modifiers associated with increased IgE levels and allergic sensitizations.

T. Jakob, J. Fischer, C. Has, 2015, The Journal of allergy and clinical immunology.

Novel mutations in the gene encoding secreted lymphocyte antigen-6/urokinase-type plasminogen activator receptor-related protein-1 (SLURP-1) and description of five ancestral haplotypes in patients with Mal de Meleda.

J. Prud'homme, D. Hohl, C. Munro, 2003, The Journal of investigative dermatology.

Combinatorial Omics Analysis Reveals Perturbed Lysosomal Homeostasis in Collagen VII-deficient Keratinocytes*

T. Reinheckel, R. Backofen, J. Dengjel, 2018, Molecular & Cellular Proteomics.

Molecular Heterogeneity of Blistering Disorders: The Paradigm of Epidermolysis Bullosa.

C. Has, L. Bruckner-Tuderman, 2012, The Journal of investigative dermatology.

Integrin α3 mutations with kidney, lung, and skin disease.

Y. Anikster, F. Hildebrandt, V. Vega-Warner, 2012, The New England journal of medicine.

Hemidesmosomes: how much plakins do they need?

C. Has, 2016, Experimental dermatology.

The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation

J. Höhfeld, R. Leube, C. Has, 2010, Human mutation.

Compound heterozygosity for dominant and recessive DSG1 mutations in a patient with atypical SAM syndrome (severe dermatitis, multiple allergies, metabolic wasting)

C. Has, R. Cosgarea, S. Zurac, 2017, Journal of the European Academy of Dermatology and Venereology : JEADV.

Acantholytic squamous cell carcinoma in a patient with junctional epidermolysis bullosa

T. Tüting, C. Has, E. Gaffal, 2023, Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG.

Withdrawn: Skin fragility caused by biallelic KRT10 mutations: an intriguing form of self‐improving epidermolytic ichthyosis

J. Fischer, C. Has, L. Frommherz, 2019, The British journal of dermatology.

Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes.

C. Has, Yinghong He, Zhigang Zhang, 2009, The American journal of pathology.

IL-17A immune pattern across genetic acantholytic and blistering disorders.

C. Has, K. Technau-Hafsi, Donglin Li, 2023, Clinical and experimental dermatology.

IL-6 levels dominate the serum cytokine signature of severe epidermolysis bullosa: A prospective cohort study.

C. Has, S. Hübner, A. Reimer-Taschenbrecker, 2024, Journal of the European Academy of Dermatology and Venereology.

Epidermolysis bullosa

C. Has, J. Mellerio, L. Bruckner-Tuderman, 2020, Nature Reviews Disease Primers.