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Article

Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2014

Pepin Melanie G, Schwarze Ulrike, Rice Kenneth M, Liu Mingdong, Leistritz Dru, Byers Peter H

Abstract excerpt

PURPOSE: We sought to characterize the natural history of vascular Ehlers-Danlos syndrome in individuals with heterozygous COL3A1 mutations. METHODS: We reviewed clinical records for details of vascular, bowel, and organ complications in 1,231 individuals (630 index cases and 601 relatives). RESULTS: Missense and splice-site mutations accounted for more than 90% of the 572 alterations that we had identified in...

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Identifiers

PMID: 24922459
DOI: 10.1038/gim.2014.72

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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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