Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review

[1]  N. Miyake,et al.  Defect in dermatan sulfate in urine of patients with Ehlers-Danlos syndrome caused by a CHST14/D4ST1 deficiency. , 2017, Clinical biochemistry.

[2]  J. Belmont,et al.  The 2017 international classification of the Ehlers–Danlos syndromes , 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

[3]  M. Kempers,et al.  Recognizing the tenascin‐X deficient type of Ehlers–Danlos syndrome: a cross‐sectional study in 17 patients , 2017, Clinical genetics.

[4]  M. Venturini,et al.  Delineation of Ehlers–Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three‐generation family without cardiovascular events, and literature review , 2017, American journal of medical genetics. Part A.

[5]  D. Lipsker,et al.  Ehlers–Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype , 2017, Clinical and experimental dermatology.

[6]  D. Nickerson,et al.  Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement , 2016, American journal of human genetics.

[7]  K. Masuda,et al.  A novel missense mutation of COL5A2 in a patient with Ehlers–Danlos syndrome , 2016, Human Genome Variation.

[8]  A. Mallappa,et al.  Ehlers–Danlos Syndrome Caused by Biallelic TNXB Variants in Patients with Congenital Adrenal Hyperplasia , 2016, Human mutation.

[9]  G. Lauria,et al.  Small fiber neuropathy is a common feature of Ehlers-Danlos syndromes , 2016, Neurology.

[10]  A. D. den Hollander,et al.  Identification of Mutations in the PRDM5 Gene in Brittle Cornea Syndrome , 2016, Cornea.

[11]  N. Foulds,et al.  Further defining the phenotypic spectrum of B4GALT7 mutations , 2016, American journal of medical genetics. Part A.

[12]  M. Butler,et al.  Mutation in TNXB gene causes moderate to severe Ehlers-Danlos syndrome , 2016, World journal of medical genetics.

[13]  M. Venturini,et al.  Further delineation of FKBP14‐related Ehlers–Danlos syndrome: A patient with early vascular complications and non‐progressive kyphoscoliosis, and literature review , 2016, American journal of medical genetics. Part A.

[14]  N. Matsumoto,et al.  Dermatan 4‐O‐sulfotransferase 1‐deficient Ehlers–Danlos syndrome complicated by a large subcutaneous hematoma on the back , 2016, The Journal of dermatology.

[15]  K. Devriendt,et al.  Expanding the clinical and mutational spectrum of the Ehlers–Danlos syndrome, dermatosparaxis type , 2016, Genetics in Medicine.

[16]  H. M. Geller,et al.  The phenotype of the musculocontractural type of Ehlers‐Danlos syndrome due to CHST14 mutations , 2016, American journal of medical genetics. Part A.

[17]  Julian N. Selley,et al.  A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome. , 2015, Human molecular genetics.

[18]  P. Byers.  Vascular Ehlers-Danlos Syndrome , 2015 .

[19]  R. Gallego-Pinazo,et al.  Bruch’s membrane abnormalities in PRDM5-related brittle cornea syndrome , 2015, Orphanet Journal of Rare Diseases.

[20]  B. Bachmann,et al.  Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature , 2015, Case reports in ophthalmological medicine.

[21]  G. Pals,et al.  Familial Ehlers‐Danlos syndrome with lethal arterial events caused by a mutation in COL5A1 , 2015, American journal of medical genetics. Part A.

[22]  J. Morton,et al.  Genetic Heterogeneity and Clinical Variability in Musculocontractural Ehlers–Danlos Syndrome Caused by Impaired Dermatan Sulfate Biosynthesis , 2015, Human mutation.

[23]  P. Beighton,et al.  Spondyloepimetaphyseal dysplasia with joint laxity (Beighton type); mutation analysis in eight affected South African families , 2015, Clinical genetics.

[24]  Takashi Sasaki,et al.  Recurrent gastrointestinal perforation in a patient with Ehlers–Danlos syndrome due to tenascin‐X deficiency , 2015, The Journal of dermatology.

[25]  B. Tinkle,et al.  Spontaneous ruptured dissection of the right common iliac artery in a patient with classic Ehlers-Danlos syndrome phenotype. , 2015, Annals of vascular surgery.

[26]  É. Mousseaux,et al.  The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers–Danlos syndrome , 2015, European Journal of Human Genetics.

[27]  F. Alkuraya,et al.  Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14‐related Ehlers–Danlos syndrome , 2014, Clinical genetics.

[28]  A. Tosun,et al.  A case of Ehlers-Danlos syndrome type VIA with a novel PLOD1 gene mutation. , 2014, Pediatric neurology.

[29]  P. Byers,et al.  FKBP14‐related Ehlers‐Danlos syndrome: Expansion of the phenotype to include vascular complications , 2014, American Journal of Medical Genetics. Part A.

[30]  P. Byers,et al.  Survival is affected by mutation type and molecular mechanism in vascular Ehlers–Danlos syndrome (EDS type IV) , 2014, Genetics in Medicine.

[31]  G. B. Schaefer,et al.  A newborn with complex skeletal abnormalities, joint contractures, and bilateral corneal clouding with sclerocornea. , 2014, Seminars in pediatric neurology.

[32]  K. Bushby,et al.  Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy. , 2014, Human molecular genetics.

[33]  M. Devoto,et al.  Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice. , 2014, Human molecular genetics.

[34]  A. Munnich,et al.  Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome , 2014, European Journal of Human Genetics.

[35]  T. Hashimoto,et al.  The first Japanese case of the arthrochalasia type of Ehlers-Danlos syndrome with COL1A2 gene mutation. , 2014, Gene.

[36]  H. Dietz,et al.  Loeys–Dietz syndrome: a primer for diagnosis and management , 2014, Genetics in Medicine.

[37]  P. Beurrier,et al.  Compound heterozygous mutations of the TNXB gene cause primary myopathy , 2014, Neuromuscular Disorders.

[38]  M. Masuda,et al.  Successful endovascular treatment of a ruptured superior mesenteric artery in a patient with Ehlers‒Danlos syndrome. , 2013, Annals of vascular surgery.

[39]  Michael H. Guo,et al.  Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature , 2013, American journal of medical genetics. Part A.

[40]  A. Janecke,et al.  Loss of dermatan sulfate epimerase (DSE) function results in musculocontractural Ehlers-Danlos syndrome. , 2013, Human molecular genetics.

[41]  S. Magina,et al.  Classic Ehlers-Danlos syndrome: case report and brief review of literature. , 2013, Acta dermatovenerologica Croatica : ADC.

[42]  D. Sillence,et al.  ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components , 2013, Molecular genetics and metabolism.

[43]  A. Kariminejad,et al.  Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder. , 2013, American journal of human genetics.

[44]  D. Chitayat,et al.  Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disorders. , 2013, American journal of human genetics.

[45]  B. Wagner,et al.  Dermatosparaxis (Ehlers–Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery , 2013, American journal of medical genetics. Part A.

[46]  L. Garavelli,et al.  Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations , 2013, Orphanet Journal of Rare Diseases.

[47]  F. Alkuraya,et al.  Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype. , 2012, Gene.

[48]  G. Andria,et al.  Cardiac valve disease: an unreported feature in Ehlers Danlos syndrome arthrocalasia type? , 2012, Italian Journal of Pediatrics.

[49]  P. Jayakar,et al.  Re‐assigned diagnosis of D4ST1‐deficient Ehlers‐Danlos syndrome (adducted thumb‐clubfoot syndrome) after initial diagnosis of Marden‐Walker syndrome , 2012, American journal of medical genetics. Part A.

[50]  O. Goksel,et al.  Spontaneous brachial pseudo-aneurysm in a 12-year-old with kyphoscoliosis-type Ehlers-Danlos Syndrome. , 2012, European journal of vascular and endovascular surgery : the official journal of the European Society for Vascular Surgery.

[51]  Y. Birnbaum,et al.  Common Iliac Artery Aneurysm and Spontaneous Dissection with Contralateral Iatrogenic Common Iliac Artery Dissection in Classic Ehlers–Danlos Syndrome , 2012, International Journal of Angiology.

[52]  D. Chitayat,et al.  Extracellular matrix and platelet function in patients with musculocontractural Ehlers–Danlos syndrome caused by mutations in the CHST14 gene , 2012, American journal of medical genetics. Part A.

[53]  P. Fergelot,et al.  Atypical male and female presentations of FLNA-related periventricular nodular heterotopia. , 2012, European journal of medical genetics.

[54]  N. van Alfen,et al.  Myopathy in a 20‐year‐old female patient with D4ST‐1 deficient Ehlers‐Danlos syndrome due to a homozygous CHST14 mutation , 2012, American journal of medical genetics. Part A.

[55]  A. De Paepe,et al.  Superior mesenteric artery aneurysm in a 9‐year‐old boy with classical Ehlers–Danlos syndrome , 2012, American journal of medical genetics. Part A.

[56]  F. Muntoni,et al.  Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. , 2012, American journal of human genetics.

[57]  F. Alkuraya,et al.  A novel mutation in PRDM5 in brittle cornea syndrome , 2012, Clinical genetics.

[58]  W. Frishman,et al.  Vascular Ehlers-Danlos Syndrome: Pathophysiology, Diagnosis, and Prevention and Treatment of Its Complications , 2012, Cardiology in review.

[59]  Y. Fukushima,et al.  Delineation of dermatan 4‐O‐sulfotransferase 1 deficient Ehlers–Danlos syndrome: Observation of two additional patients and comprehensive review of 20 reported patients , 2011, American journal of medical genetics. Part A.

[60]  P. Byers,et al.  COL3A1 haploinsufficiency results in a variety of Ehlers-Danlos syndrome type IV with delayed onset of complications and longer life expectancy , 2011, Genetics in Medicine.

[61]  M. Baumgartner,et al.  Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation , 2011, Orphanet journal of rare diseases.

[62]  J. Clayton-Smith,et al.  Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance. , 2011, American journal of human genetics.

[63]  A. De Paepe,et al.  A Novel Splice Variant in the N-propeptide of COL5A1 Causes an EDS Phenotype with Severe Kyphoscoliosis and Eye Involvement , 2011, PloS one.

[64]  S. Nampoothiri,et al.  Musculocontractural Ehlers‐Danlos Syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan‐4‐sulfotransferase 1 encoding CHST14 gene , 2010, Human mutation.

[65]  F. Alkuraya,et al.  Blue sclera with and without corneal fragility (brittle cornea syndrome) in a consanguineous family harboring ZNF469 mutation (p.E1392X). , 2010, Archives of ophthalmology.

[66]  A. Kariminejad,et al.  Ehlers-Danlos Syndrome Type VI in a 17-Year-Old Iranian Boy with Severe Muscular Weakness – A Diagnostic Challenge? , 2010, Iranian journal of pediatrics.

[67]  P. Beighton,et al.  Arterial rupture in classic Ehlers–Danlos syndrome with COL5A1 mutation , 2010, American journal of medical genetics. Part A.

[68]  Y. Fukushima,et al.  Loss‐of‐function mutations of CHST14 in a new type of Ehlers‐Danlos syndrome , 2010, Human mutation.

[69]  Laurence Faivre,et al.  The revised Ghent nosology for the Marfan syndrome , 2010, Journal of Medical Genetics.

[70]  G. Utermann,et al.  Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome. , 2009, American journal of human genetics.

[71]  S. Laurent,et al.  Effect of Celiprolol on Prevention of Cardiovascular Events in Vascular Ehlers-Danlos Syndrome , 2009 .

[72]  C. Berg,et al.  Trends in postpartum hemorrhage in high resource countries: a review and recommendations from the International Postpartum Hemorrhage Collaborative Group , 2009, BMC pregnancy and childbirth.

[73]  C. Bönnemann,et al.  Myopathy and polyneuropathy in an adolescent with the kyphoscoliotic type of Ehlers–Danlos syndrome , 2009, American journal of medical genetics. Part A.

[74]  A. De Paepe,et al.  Bleeding in the heritable connective tissue disorders: mechanisms, diagnosis and treatment. , 2009, Blood reviews.

[75]  D. Moher,et al.  Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement , 2009, BMJ.

[76]  A. De Paepe,et al.  COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers‐Danlos syndrome , 2009, Human mutation.

[77]  B. Kerlin,et al.  Desmopressin responsiveness in children with Ehlers‐Danlos syndrome associated bleeding symptoms , 2009, British journal of haematology.

[78]  S. Polak‐Charcon,et al.  Multiple congenital skull fractures as a presentation of Ehlers–Danlos syndrome type VIIC , 2008, American journal of medical genetics. Part A.

[79]  J. Beckmann,et al.  The Zinc Transporter SLC39A13/ZIP13 Is Required for Connective Tissue Development; Its Involvement in BMP/TGF-β Signaling Pathways , 2008, PloS one.

[80]  N. Elçioglu,et al.  Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. , 2008, American journal of human genetics.

[81]  M. Frydman,et al.  Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome. , 2008, American journal of human genetics.

[82]  B. Engelen,et al.  Differential diagnosis of muscular hypotonia in infants: The kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI) , 2008, Neuromuscular Disorders.

[83]  H. Shehata,et al.  Menorrhagia and bleeding disorders , 2007, Current opinion in obstetrics & gynecology.

[84]  A. De Paepe,et al.  Three arginine to cysteine substitutions in the pro‐alpha (I)‐collagen chain cause Ehlers‐Danlos syndrome with a propensity to arterial rupture in early adulthood , 2007, Human mutation.

[85]  A. De Paepe,et al.  Total absence of the α2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems , 2005, Journal of Medical Genetics.

[86]  C. Giunta,et al.  Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA). , 2005, Molecular genetics and metabolism.

[87]  H. Brunner,et al.  Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers–Danlos syndrome (EDS VIA) , 2005, American journal of medical genetics. Part A.

[88]  M. Götte,et al.  Defective Glycosaminoglycan Substitution of Decorin in a Patient With Progeroid Syndrome Is a Direct Consequence of Two Point Mutations in the Galactosyltransferase I (ß4galT-7) Gene , 2005, Biochemical Genetics.

[89]  A. De Paepe,et al.  The molecular basis of classic Ehlers‐Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients , 2005, Human mutation.

[90]  A. Paepe,et al.  Bleeding and bruising in patients with Ehlers–Danlos syndrome and other collagen vascular disorders , 2004, British journal of haematology.

[91]  A. De Paepe,et al.  The natural history, including orofacial features of three patients with Ehlers–Danlos syndrome, dermatosparaxis type (EDS type VIIC) , 2004, American journal of medical genetics. Part A.

[92]  J. Oosterwijk,et al.  Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene. , 2004, The Journal of investigative dermatology.

[93]  A. De Paepe,et al.  Discordance between phenotypic appearance and genotypic findings in a familial case of classical Ehlers–Danlos syndrome , 2004, American journal of medical genetics. Part A.

[94]  L. Tsui,et al.  A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type , 2004, American journal of medical genetics. Part A.

[95]  P. Byers,et al.  Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. , 2004, American journal of human genetics.

[96]  J. Brinckmann,et al.  Ehlers-Danlos syndrome type VI with cystic malformations of the meninges in a 7-year-old girl , 2004, European Journal of Pediatrics.

[97]  S. Grundy.  NCEP guidelines: What has been done and what are the next steps? , 2003 .

[98]  P. Byers,et al.  Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. , 2002, American journal of human genetics.

[99]  D. Eyre,et al.  The kyphoscoliotic type of Ehlers-Danlos syndrome (type VI): differential effects on the hydroxylation of lysine in collagens I and II revealed by analysis of cross-linked telopeptides from urine. , 2002, Molecular genetics and metabolism.

[100]  M. Raghunath,et al.  Homozygous Gly530Ser substitution in COL5A1 causes mild classical Ehlers-Danlos syndrome. , 2002, American journal of medical genetics.

[101]  Dominique P Germain,et al.  Clinical and Genetic Features of Vascular Ehlers-Danlos Syndrome , 2002, Annals of vascular surgery.

[102]  J. Schalkwijk,et al.  A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. , 2001, The New England journal of medicine.

[103]  J. Stoler,et al.  Separation of amniotic membranes after amniocentesis in an individual with the classic form of EDS and haploinsufficiency for COL5A1 expression. , 2001, American journal of medical genetics.

[104]  W. Cole,et al.  COL5A1 Exon 14 Splice Acceptor Mutation Causes a Functional Null Allele, Haploinsufficiency of α1(V) and Abnormal Heterotypic Interstitial Fibrils in Ehlers-Danlos Syndrome II* , 2001, The Journal of Biological Chemistry.

[105]  L. Walker,et al.  Mutational analysis of the lysyl hydroxylase 1 gene (PLOD) in six unrelated patients with Ehlers‐Danlos syndrome type VI: Prenatal exclusion of this disorder in one family , 2000 .

[106]  S. Laurent,et al.  Local pulse pressure and regression of arterial wall hypertrophy during long-term antihypertensive treatment. , 2000, Circulation.

[107]  P. Byers,et al.  Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). , 2000, American journal of human genetics.

[108]  L. Lagae,et al.  Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen. , 2000, American journal of human genetics.

[109]  P. Byers,et al.  Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. , 2000, The New England journal of medicine.

[110]  J. D. Allen,et al.  Deletion of cysteine 369 in lysyl hydroxylase 1 eliminates enzyme activity and causes Ehlers-Danlos syndrome type VI. , 2000, Matrix biology : journal of the International Society for Matrix Biology.

[111]  C. Giunta,et al.  Compound heterozygosity for a disease-causing G1489E [corrected] and disease-modifying G530S substitution in COL5A1 of a patient with the classical type of Ehlers-Danlos syndrome: an explanation of intrafamilial variability? , 2000, American journal of medical genetics.

[112]  Kazuro Furukawa,et al.  Molecular Basis for the Progeroid Variant of Ehlers-Danlos Syndrome , 1999, The Journal of Biological Chemistry.

[113]  W. Reardon,et al.  Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. , 1999, American journal of human genetics.

[114]  D. Grange,et al.  A patient with Ehlers-Danlos syndrome type VI is homozygous for a premature termination codon in exon 14 of the lysyl hydroxylase 1 gene. , 1999, Molecular genetics and metabolism.

[115]  W. Cole,et al.  Ehlers-Danlos syndrome type VII: clinical features and molecular defects. , 1999, The Journal of bone and joint surgery. American volume.

[116]  P. Beighton,et al.  Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). , 1998, American journal of medical genetics.

[117]  P. Beighton,et al.  Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). , 1998, American journal of medical genetics.

[118]  K. Michalickova,et al.  Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. , 1998, Human molecular genetics.

[119]  S. Krane,et al.  Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. , 1997, American journal of medical genetics.

[120]  J. Bristow,et al.  Tenascin–X deficiency is associated with Ehlers–Danlos syndrome , 1997, Nature Genetics.

[121]  K. Stine,et al.  DDAVP therapy controls bleeding in Ehlers-Danlos syndrome. , 1997, Journal of pediatric hematology/oncology.

[122]  J. Naeyaert,et al.  Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. , 1997, American journal of human genetics.

[123]  D. Greenspan,et al.  An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome. , 1996, Journal of medical genetics.

[124]  W. Cole,et al.  A Splice-Junction Mutation in the Region of COL5A1 that Codes for the Carboxyl Propeptide of Proα1(V) Chains Results in the Gravis Form of the Ehlers-Danlos Syndrome (Type I) , 1996 .

[125]  W. Cole,et al.  A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I). , 1996, Human molecular genetics.

[126]  P. Byers,et al.  A translocation interrupts the COL5A1 gene in a patient with Ehlers–Danlos syndrome and hypomelanosis of Ito , 1996, Nature Genetics.

[127]  K. Kivirikko,et al.  Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome. , 1994, American journal of human genetics.

[128]  W. Cole,et al.  The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene. , 1994, Journal of medical genetics.

[129]  M. Callam,et al.  Epidemiology of varicose veins , 1994, The British journal of surgery.

[130]  P. Byers,et al.  Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section. , 1992, The Journal of biological chemistry.

[131]  W. Cole,et al.  A base substitution at the splice acceptor site of intron 5 of the COL1A2 gene activates a cryptic splice site within exon 6 and generates abnormal type I procollagen in a patient with Ehlers-Danlos syndrome type VII. , 1992, The Journal of biological chemistry.

[132]  B. Blumberg,et al.  Characterization of a COL1A1 splicing defect in a case of Ehlers-Danlos syndrome type VII: further evidence of molecular homogeneity. , 1991, American journal of human genetics.

[133]  R. Weksberg,et al.  A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype. , 1991, American journal of human genetics.

[134]  R. Glanville,et al.  Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain. , 1987, The Journal of biological chemistry.

[135]  L. Elsas,et al.  Ascorbate regulation of collagen biosynthesis in Ehlers-Danlos syndrome, type VI. , 1987, Metabolism: clinical and experimental.

[136]  V. McKusick,et al.  Inheritance of Ehlers-Danlos type IV syndrome. , 1977, Journal of medical genetics.

[137]  C. Giunta,et al.  Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype , 2014, European Journal of Pediatrics.

[138]  W. Khan,et al.  Non-operative management of diverticular perforation in a patient with suspected Ehlers-Danlos syndrome. , 2014, International journal of surgery case reports.

[139]  N. Morling,et al.  Brittle cornea syndrome associated with a missense mutation in the zinc-finger 469 gene. , 2010, Investigative ophthalmology & visual science.

[140]  A. Mavrou,et al.  A case of Ehlers Danlos syndrome type VI. , 2006, Genetic counseling.

[141]  Lily T Ma,et al.  Further evidence that the failure to cleave the aminopropeptide of type I procollagen is the cause of Ehlers–Danlos syndrome type VII , 1994, Human mutation.