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Article

Two closely spaced missense COL3A1 variants in cis cause vascular Ehlers-Danlos syndrome in one large Chinese family.

Journal of cellular and molecular medicine - 1 Jan 2022

Liang Mei, Chen Chong, Dai Yan, Chang Yunbing, Gao Yushun

Abstract excerpt

Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe hereditary connective tissue disease arising from a mutation in the type III collagen alpha I chain (COL3A1) gene, with a poor prognosis due to exceptional vascular ruptures and premature death. Herein, starting from a 36-year-old Chinese male patient with a complaint of upper abdominal pain, we collected clinical data of and performed a genetic analysis...

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Identifiers

PMID: 34845833
DOI: 10.1111/jcmm.17063
PMCID: PMC8742230

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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