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Article

Genetic analysis of three Korean patients with clinical features of Ehlers-Danlos syndrome type IV.

Journal of Korean medical science - 1 Aug 2007

Yang Jeong Hoon, Lee Seung Tae, Kim Jee Ah, Kim Sung Hae, Jang Shin Yi, Ki Chang Seok, Kim Duk Kyung

Abstract excerpt

Ehlers-Danlos syndrome (EDS) is a hereditary disorder of the connective tissue. EDS type IV (EDS IV), the vascular type of the disease, is characterized by easy bruising, thin skin with visible veins, and spontaneous rupture of the large arteries, uterus, or bowel. EDS IV is caused by mutations in the gene for type III procollagen (COL3A1). However, recent studies suggest that the causative mutation of EDS IV is...

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Identifiers

PMID: 17728513
DOI: 10.3346/jkms.2007.22.4.698
PMCID: PMC2693823

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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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