E. Guillén-Navarro

发表

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

P. Calvas, N. Chassaing, M. Holder-Espinasse, 2013, American journal of medical genetics. Part A.

Androgen receptor polyQ alleles and COVID‐19 severity in men: A replication study

I. Mahillo, M. Cortón, E. Paz-Artal, 2022, medRxiv.

Rapp-Hodgkin syndrome and SHFM1 patients: delineating the p63-Dlx5/Dlx6 pathway.

E. Guillén-Navarro, M. Moya-Quiles, V. López‐González, 2012, Gene.

Mendelian diseases among Roman Jews: implications for the origins of disease alleles.

H. Ostrer, K. Nafa, L. Luzzatto, 1999, The Journal of clinical endocrinology and metabolism.

Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation.

P. Scambler, R. Winter, D. Shears, 2002, American journal of medical genetics.

Barth syndrome in adulthood: a clinical case.

M. Sabater-Molina, F. Ruíz-Espejo, E. Guillén-Navarro, 2013, Revista espanola de cardiologia.

A multicriteria decision analysis (MCDA) applied to three long-term prophylactic treatments for hereditary angioedema in Spain

J. Poveda-Andrés, E. Guillén-Navarro, R. Jódar, 2022, Global & regional health technology assessment.

Development and validation of an MCDA framework for evaluation and decision-making of orphan drugs in Spain

X. Badia, M. Posada, J. Poveda, 2019, Expert Opinion on Orphan Drugs.

LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.

P. Lapunzina, B. Ezquieta, E. Guillén-Navarro, 2013, Revista espanola de cardiologia.

Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.

B. Ezquieta, E. Maroto, E. Guillén-Navarro, 2012, Revista espanola de cardiologia.

Alterations in RAS-MAPK Genes in 200 Spanish Patients With Noonan and Other Neuro-Cardio-Facio-Cutaneous Syndromes. Genotype and Cardiopathy

B. Ezquieta, E. Maroto, E. Guillén-Navarro, 2012 .

Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease

Ángel García, J. Requena, A. Rábano, 2015, Neurobiology of Disease.

Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype.

E. Guillén-Navarro, J. Gimeno-Blanes, J. Piñero-Fernández, 2014, Medicina clinica.

Presence of rare potential pathogenic variants in subjects under 65 years old with very severe or fatal COVID-19

Maximiliano García Torrejón, I. Mahillo, F. Rojo, 2022, Scientific Reports.

X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity

Alison M. Male, P. Bauer, D. Wieczorek, 2013, Orphanet Journal of Rare Diseases.

Characterization of a de novo complex chromosomal rearrangement in a patient with cri‐du‐chat and trisomy 5p syndromes

C. Fuster, E. Guillén-Navarro, M. Ballesta-Martínez, 2009, American journal of medical genetics. Part A.

The first European consensus on principles of management for achondroplasia

G. Mortier, M. Maghnie, M. Irving, 2021, Orphanet Journal of Rare Diseases.

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

J. Charrow, C. Boerkoel, D. Lewis, 2012, Orphanet Journal of Rare Diseases.

Two mutations in IFITM5 causing distinct forms of osteogenesis imperfecta

P. Lapunzina, E. Guillén-Navarro, A. Utkus, 2014, American journal of medical genetics. Part A.

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

E. Aller, E. Tizzano, E. Bertini, 2022, International journal of molecular sciences.

Optimising care and follow-up of adults with achondroplasia

G. Mortier, M. Maghnie, M. Irving, 2022, Orphanet Journal of Rare Diseases.

Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

G. Mortier, M. Maghnie, C. Garel, 2022, Orphanet Journal of Rare Diseases.

Identification of the fourth duplication of upstream IHH regulatory elements, in a family with craniosynostosis Philadelphia type, helps to define the phenotypic characterization of these regulatory elements

E. Guillén-Navarro, E. Barroso, K. Heath, 2015, American journal of medical genetics. Part A.

Mendelian diseases among Roman Jews: implications for the origins of disease alleles.

H. Ostrer, K. Nafa, L. Luzzatto, 1999, The Journal of clinical endocrinology and metabolism.

Barth syndrome in adulthood: a clinical case.

M. Sabater-Molina, F. Ruíz-Espejo, E. Guillén-Navarro, 2013 .

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program

M. O'Callaghan, M. Couce, G. Pintos-Morell, 2018, Molecular genetics and metabolism reports.

Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

C. Boerkoel, D. Lewis, A. Baradaran‐Heravi, 2015, Clinical immunology.

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

C. Boerkoel, T. Seeman, E. Levtchenko, 2011, Pediatric rheumatology online journal.

Schimke immunoosseous dysplasia: suggestions of genetic diversity

C. Cancrini, C. Boerkoel, J. Ehrich, 2007, Human mutation.

[Assessment of psychomotor development of Spanish children up to 3 years of age conceived by assisted reproductive techniques: Prospective matched cohort study].

E. Guillén-Navarro, V. López‐González, M. Ballesta-Martínez, 2019, Anales de pediatria.

Mutations in PLOD2 cause autosomal‐recessive connective tissue disorders within the Bruck syndrome—Osteogenesis imperfecta phenotypic spectrum

P. Lapunzina, K. Amr, J. Caparrós-Martín, 2012, Human mutation.

Clinical manifestations in female carriers of mucopolysaccharidosis type II: a spanish cross-sectional study

M. Couce, E. Galán-Gómez, E. Guillén-Navarro, 2013, Orphanet Journal of Rare Diseases.

Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants

P. Lapunzina, E. Guillén-Navarro, E. Barroso, 2014, European Journal of Human Genetics.

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

S. Borrego, C. Hernández-Chico, J. Rosell, 2010, Journal of Medical Genetics.

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia

S. Mundlos, H. Brunner, C. Ott, 2010, Human mutation.

High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

E. Guillén-Navarro, M. Barreda-Sánchez, V. López‐González, 2019, Orphanet Journal of Rare Diseases.

A New Overgrowth Syndrome is due to Mutations in RNF125

J. Dopazo, D. Montaner, E. López-Granados, 2014, Human mutation.

Skipped BSCL2 Transcript in Celia’s Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis

B. González-Méndez, E. Guillén-Navarro, Alexander Unruh-Pinheiro, 2016, PloS one.

Health impact of acute intermittent porphyria in latent and non-recurrent attacks patients

E. Guillén-Navarro, M. E. Pérez-Tomás, M. Barreda-Sánchez, 2021, Orphanet Journal of Rare Diseases.

EXPLORE B: A prospective, long‐term natural history study of patients with acute hepatic porphyria with chronic symptoms

H. Bonkovsky, M. Sweetser, D. Cassiman, 2022, Journal of inherited metabolic disease.

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease

L. de Meirleir, J. Zeman, P. Hensman, 2011, Orphanet journal of rare diseases.

Novel genes and sex differences in COVID-19 severity

Gloria L. Porras-Hurtado, M. Urioste, M. Buti, 2022, Human molecular genetics.

Positional skull deformities in children: skull deformation without synostosis

E. Guillén-Navarro, J. Martínez-Lage, M. Pérez-Espejo, 2006, Child's Nervous System.

Assessment of psychomotor development of Spanish children up to 3 years of age conceived by assisted reproductive techniques: Prospective matched cohort study

E. Guillén-Navarro, V. López‐González, M. Ballesta-Martínez, 2020 .

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

M. Couce, G. Pintos-Morell, E. Guillén-Navarro, 2021, Orphanet Journal of Rare Diseases.

Hydrocephalus and Chiari type 1 malformation in macrocephaly-cutis marmorata telangiectatica congenita: a case-based update

E. Guillén-Navarro, J. Martínez-Lage, M Galarza, 2009, Child's Nervous System.

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis

L. de Meirleir, D. Ardigò, A. Lund, 2018, Journal of Inherited Metabolic Disease.

A new form of complicated hereditary spastic paraplegia with cataracts, atretic ear canals and hypopigmentation

E. Guillén-Navarro, R. Wallerstein, E. Moran, 1998, Clinical Neurology and Neurosurgery.

SRY gene expression in the ovotestes of XX true hermaphrodites.

H. Ostrer, H. Yee, K. McElreavey, 2002, The Journal of urology.

Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: Clinical and molecular findings in 11 patients

B. Ezquieta, Y. Aoki, D. Grinberg, 2015 .

Cardiofaciocutaneous syndrome, a Noonan syndrome related disorder: Clinical and molecular findings in 11 patients

B. Ezquieta, Y. Aoki, D. Grinberg, 2015 .

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

L. Fachal, A. Vega, E. Guillén-Navarro, 2020, PloS one.

Protocol for the Phase 2 EDELIFE Trial Investigating the Efficacy and Safety of Intra-Amniotic ER004 Administration to Male Subjects with X-Linked Hypohidrotic Ectodermal Dysplasia

C. Bodemer, A. Clarke, H. Schneider, 2023, Genes.

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

Philippe M Campeau, Tiziana Granata, Ronnie Wright, 2016, American journal of human genetics.

Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis.

D. Fatkin, S. Dunwoodie, D. Sparrow, 2008, Human molecular genetics.

Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication

B. Rodríguez-Santiago, E. Guillén-Navarro, S. García-Miñaúr, 2013, American journal of medical genetics. Part A.

Array CGH detection of a novel cryptic deletion at 3q13 in a complex chromosome rearrangement.

E. Guillén-Navarro, V. López‐González, M. Ballesta-Martínez, 2014, Genomics.

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

A. Torrelo, E. Guillén-Navarro, L. Noguera‐Morel, 2019, Orphanet Journal of Rare Diseases.

Robinow syndrome with developmental brain dysplasia.

H. Ostrer, E. Guillén-Navarro, R. Wallerstein, 1997, American journal of medical genetics.

Variability in Phelan-McDermid Syndrome in a Cohort of 210 Individuals

J. Cigudosa, B. Gener, L. Pérez-Jurado, 2022, Frontiers in Genetics.

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.

I. Krantz, H. Hakonarson, E. Roeder, 2014, Human molecular genetics.

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

T. Wieland, T. Strom, D. Wieczorek, 2015, Human Genetics.

Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

H. Hakonarson, B. Gener, D. Sharon, 2021, Scientific reports.

A new case of Dias-Logan syndrome: a previously unreported de novo pathogenic variant (c.1076_1100)

E. Guillén-Navarro, A. T. Serrano-Antón, M. J. S. Soler, 2022, Neurology Perspectives.

Duplication 19q13-qter and deletion 19p13-pter arising from an inversion (19)(p13.3q13.3) of maternal origin.

C. Fuster, E. Guillén-Navarro, J. A. Bafallíu, 2006, European journal of medical genetics.

First Spanish case of syndromic intellectual disability with dysmorphic facies, seizures, and distal limb anomalies caused by biallelic mutations in the OTUD6B gene

E. Guillén-Navarro, V. López‐González, M. J. Martínez, 2020 .

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

K. Devriendt, J. Vermeesch, B. Gener, 2013, Human molecular genetics.

Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants

P. Lapunzina, J. Nevado, N. Gallego, 2022, Cancers.

CDKN1C (p57Kip2) analysis in Beckwith–Wiedemann syndrome (BWS) patients: Genotype–phenotype correlations, novel mutations, and polymorphisms

J. Wesselink, P. Lapunzina, R. Mena, 2010, American journal of medical genetics. Part A.

Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects

E. Guillén-Navarro, J. A. Bafallíu, M. C. Bernabé, 2006, Prenatal diagnosis.

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

E. Aller, H. Kayserili, P. Lapunzina, 2020, Human mutation.

[Monogenic causes of X-linked mental retardation].

E. Guillén-Navarro, G. Glover-López, 2006, Revista de neurologia.

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

T. Wieland, T. Strom, D. Wieczorek, 2015, Human Genetics.

Participant-funded clinical trials on rare diseases.

R. Dal-Ré, C. Ayuso, E. Guillén-Navarro, 2020, Anales de pediatria.

[Participant-funded clinical trials on rare diseases].

R. Dal-Ré, C. Ayuso, E. Guillén-Navarro, 2020, Anales de pediatria.

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

P. Lapunzina, J. Nevado, E. Vallespín, 2016, Molecular genetics & genomic medicine.

Molecular characterization of a new patient with a non‐recurrent inv dup del 2q and review of the mechanisms for this rearrangement

J. Suela, E. Guillén-Navarro, M. Ballesta-Martínez, 2010, American journal of medical genetics. Part A.

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

J. Gécz, M. Bitner-Glindzicz, J. Tolmie, 2006, Human molecular genetics.

A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia

E. Guillén-Navarro, M. Moya-Quiles, M. Ballesta-Martínez, 2010, Archives of Dermatological Research.

Recombinant human leptin treatment in genetic lipodystrophic syndromes: the long-term Spanish experience

F. Casanueva, B. González-Méndez, E. Guillén-Navarro, 2014, Endocrine.

Pre‐ and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome

E. Guillén-Navarro, V. López‐González, Ascensión Vera-Carbonell, 2013, American journal of medical genetics. Part A.

Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations

P. Lapunzina, F. Santos-Simarro, Á. Del Pozo, 2016, American journal of medical genetics. Part A.

Diagnosis and follow-up of patients with Hunter syndrome in Spain

M. Couce, E. Guillén-Navarro, J. Dalmau, 2018, Medicine.

[Schinzel-Giedion syndrome: a new mutation in SETBP1].

E. Guillén-Navarro, L. Burglen, S. Whalen, 2015, Anales de pediatria.

Intrachromosomal partial triplication of chromosome 13 secondary to a paternal duplication with mild phenotypic effect

C. Fuster, Mónica Santos, E. Guillén-Navarro, 2008, American journal of medical genetics. Part A.

New case with the recurrent c.625G>A pathogenic variant in the PACS2 gene: expanding the phenotype.

E. Guillén-Navarro, M. J. Sánchez-Soler, A. T. Serrano-Antón, 2021, Neurología.

New case with the recurrent c.635G>A pathogenic variant in the PACS2 gene: Expanding the phenotype.

E. Guillén-Navarro, M. J. Sánchez-Soler, A. T. Serrano-Antón, 2021, Neurologia.

GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

S. Kristensen, J. Corral, V. Vicente, 2013, Orphanet Journal of Rare Diseases.

Bioethical Concerns During the COVID-19 Pandemic: What Did Healthcare Ethics Committees and Institutions State in Spain?

E. Guillén-Navarro, Í. de Miguel Beriain, J. Ruiz-Hornillos, 2021, Frontiers in Public Health.

Clinical comparison of 10q26 overlapping deletions: Delineating the critical region for urogenital anomalies

E. Guillén-Navarro, V. López‐González, M. Ballesta-Martínez, 2015, American journal of medical genetics. Part A.

A Novel Mutation Associated with Neonatal Lethal Cardiomyopathy Leads to an Alternative Transcript Expression in the X-Linked Complex I NDUFB11 Gene

J. Arenas, Miguel Ángel Martín, C. Ugalde, 2023, International journal of molecular sciences.

Dental Phenotype with Minor Ectodermal Symptoms Suggestive of WNT10A Deficiency

R. Rodríguez-López, C. Llena, E. Guillén-Navarro, 2023, Children.

Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years

F. Rojo, S. Zazo, M. Cortón, 2022, GeroScience.

Eccrine syringofibroadenoma as a clue for the diagnosis of Schöpf‐Schulz‐Passarge syndrome in acquired palmoplantar keratoderma

L. Alós, E. Guillén-Navarro, J. Mascaró, 2020, Journal of cutaneous pathology.

Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I.

E. Guillén-Navarro, J. Martínez-Lage, M. Almagro, 2008, Journal of neurosurgery.

Chiari type 1 anomaly in pseudohypoparathyroidism type Ia: pathogenetic hypothesis

E. Guillén-Navarro, J. Martínez-Lage, A. L. López-Guerrero, 2011, Child's Nervous System.

A new seipin-associated neurodegenerative syndrome

Á. Ruibal, P. Aguiar, B. González-Méndez, 2013, Journal of Medical Genetics.

Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2

Y. Parman, L. Kalaydjieva, R. King, 2006, Neuromuscular Disorders.

[The current state of acute intermittent porphyria in the region of Murcia].

E. Guillén-Navarro, J. Meca-Lallana, A. Fernández-Barreiro, 2004, Revista de neurologia.

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

P. Lapunzina, F. Santos-Simarro, J. Nevado, 2023, Genes.

Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice

E. Guillén-Navarro, M. Barreda-Sánchez, V. López‐González, 2023, Orphanet Journal of Rare Diseases.

Real-world evidence in achondroplasia: considerations for a standardized data set

M. Maghnie, M. Sessa, M. Irving, 2023, Orphanet Journal of Rare Diseases.

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment

F. Santos-Simarro, B. Ezquieta, E. Guillén-Navarro, 2023, Journal of clinical medicine.

LEOPARD Syndrome: A Variant of Noonan Syndrome Strongly Associated With Hypertrophic Cardiomyopathy

P. Lapunzina, B. Ezquieta, E. Guillén-Navarro, 2017 .

Author Correction: GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Matthew A. Wiles, Ellen C. Smith, Jack D. Sanders, 2023, Nature.

GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19

Matthew A. Wiles, Ellen C. Smith, Jack D. Sanders, 2023, Nature.

Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria

E. Guillén-Navarro, M. Sánchez-Solís, P. Carbonell, 2004, Annals of human genetics.

996 Disease Characteristics of Acute Hepatic Porphyria Patients: ENVISION, a Phase 3 Global, Multicenter, Randomized, Double-Blind, Placebo-Controlled Trial

H. Bonkovsky, P. Stein, L. Gouya, 2019, American Journal of Gastroenterology.

Functional characterization of GATA 3 mutations causing the hypoparathyroidism-deafness-renal ( HDR ) dysplasia syndrome : insight into mechanisms of DNA binding by the GATA 3 transcription factor

N. Freimer, T. Hudson, E. Silverman, 2007 .

Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation

M. Campo, J. Corral, V. Vicente, 2018, Pediatric Research.

Acro-renal-ocular syndrome: expansion of the phenotype.

H. Ostrer, E. Guillén-Navarro, E. Reich, 1998, Clinical Dysmorphology.

A second update on mapping the human genetic architecture of COVID-19

M. A. Hakim Newton, Jack D. Sanders, Jonathan H. Morgan, 2022, Nature.

Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

C. Boerkoel, T. Seeman, E. Levtchenko, 2011, Pediatric rheumatology online journal.

Alterations in RAS-MAPK Genes in 200 Spanish Patients With Noonan and Other Neuro-Cardio-Facio-Cutaneous Syndromes. Genotype and Cardiopathy

B. Ezquieta, E. Maroto, E. Guillén-Navarro, 2012 .

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

J. Rosell, M. Barceló, E. Tizzano, 2010, Journal of Medical Genetics.

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

M. Maghnie, G. Zampino, J. Jarrett, 2023, Orphanet Journal of Rare Diseases.

Efficacy and safety of givosiran for acute hepatic porphyria: Final results of the randomized phase III ENVISION trial.

H. Bonkovsky, M. Sweetser, M. Cappellini, 2023, Journal of hepatology.

Lack of IL7Rα expression in T cells is a hallmark of T-cell immunodeficiency in Schimke immuno-osseous dysplasia (SIOD).

C. Boerkoel, K. Choi, T. Hunley, 2015, Clinical immunology.

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

A. Nordgren, B. Kerr, S. Banka, 2016, American journal of human genetics.