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Article

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.

European journal of human genetics : EJHG - 1 Dec 2015

Frank Michael, Albuisson Juliette, Ranque Brigitte, Golmard Lisa, Mazzella Jean-Michael, Bal-Theoleyre Laurence, Fauret Anne-Laure, Mirault Tristan, Denarié Nicolas, Mousseaux Elie, Boutouyrie Pierre, Fiessinger Jean-Noël, Emmerich Joseph, Messas Emmanuel, Jeunemaitre Xavier

Abstract excerpt

Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe autosomal dominant disorder caused by variants at the COL3A1 gene. Clinical characteristics and course of disease of 215 molecularly proven patients (146 index cases and 69 relatives) were analysed. We found 126 distincts variants that were divided into five groups: (1) Glycine substitutions (n=71), (2) splice-site and in-frame insertions-deletions...

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Identifiers

PMID: 25758994
DOI: 10.1038/ejhg.2015.32
PMCID: PMC4795191

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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