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Article

Vascular Ehlers-Danlos Syndrome in siblings with biallelic COL3A1 sequence variants and marked clinical variability in the extended family.

European journal of human genetics : EJHG - 1 Jun 2015

Jørgensen Agnete, Fagerheim Toril, Rand-Hendriksen Svend, Lunde Per I, Vorren Torgrim O, Pepin Melanie G, Leistritz Dru F, Byers Peter H

Abstract excerpt

Vascular Ehlers-Danlos Syndrome (vEDS), also known as EDS type IV, is considered to be an autosomal dominant disorder caused by sequence variants in COL3A1, which encodes the chains of type III procollagen. We identified a family in which there was marked clinical variation with the earliest deat...

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Identifiers

PMID: 25205403
DOI: 10.1038/ejhg.2014.181
PMCID: PMC4795069

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25205403-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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