Associated Papers
A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.
Lavanya K et al.
American Journal of Medical Genetics. Part A, 2022
Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome.
Colman M et al.
Human Mutation, 2021
Glycine substitution mutation of COL5A1 in classic Ehlers-Danlos syndrome: a case report and literature review.
Gong Z et al.
Clinical and Experimental Dermatology, 2021
Arterial complications in classical Ehlers-Danlos syndrome: a case series.
Angwin C et al.
Journal of Medical Genetics, 2020
Ehlers-Danlos syndrome, classical type.
Bowen JM et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2017
Structural in silico dissection of the collagen V interactome to identify genotype-phenotype correlations in classic Ehlers-Danlos Syndrome (EDS).
Paladin L et al.
Febs Letters, 2015
Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
Monroe GR et al.
American Journal of Medical Genetics. Part A, 2015
Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations.
Ritelli M et al.
Orphanet Journal of Rare Diseases, 2013
Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria.
Symoens S et al.
Human Mutation, 2012
Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome.
de Leeuw K et al.
American Journal of Medical Genetics. Part A, 2012
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