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Article

Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.

American journal of medical genetics. Part A - 1 Aug 2010

Borck Guntram, Beighton Peter, Wilhelm Christian, Kohlhase Jürgen, Kubisch Christian

Abstract excerpt

The vascular type of Ehlers-Danlos syndrome (EDS IV) is associated with a high risk of life-threatening medical complications, including ruptures of large arteries, the intestine, and the uterus during pregnancy. An arterial rupture occurring in an individual with EDS is regarded as almost diagnostic of EDS IV, which is caused by heterozygous mutations in COL3A1. Here however, we report on a man with skin lesions...

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PMID: 20635400
DOI: 10.1002/ajmg.a.33541

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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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Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.PMID 20635400Read ↗

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Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type.Semantic proximity Read ↗

A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.Semantic proximity Read ↗

Peripartum Iliac Arterial Aneurysm and Rupture in a Patient with Vascular Ehlers-Danlos Syndrome Diagnosed by Next-Generation Sequencing.Semantic proximity Read ↗

A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.Semantic proximity Read ↗

Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review.Semantic proximity Read ↗

Vascular Ehlers-Danlos syndrome, an often unrecognized clinical entity: a case report of a novel mutation in the COL3A1 gene.Semantic proximity Read ↗

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