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Article

A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.

Experimental dermatology - 1 Mar 2013

Eder Johanna, Laccone Franco, Rohrbach Marianne, Giunta Cecilia, Aumayr Klaus, Reichel Christofer, Trautinger Franz

Abstract excerpt

The vascular type of the Ehlers-Danlos syndrome (Ehlers-Danlos syndrome type IV, EDS IV; OMIM #130050) is a rare connective tissue disorder with autosomal dominant transmission caused by mutations in the COL3A1 gene resulting in increased fragility of connective tissue with arterial, intestinal, and uterine ruptures and premature death. We present a 28-year-old female who in addition to typical EDS IV symptoms...

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PMID: 23489429
DOI: 10.1111/exd.12105

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.PMID 23489429Read ↗

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

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Next-generation sequencing and a novel COL3A1 mutation associated with vascular Ehlers-Danlos syndrome with severe intestinal involvement: a case report.Semantic proximity Read ↗

The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.Semantic proximity Read ↗

Novel compound heterozygous COL3A1 variants are associated with Vascular Ehlers-Danlos SyndromeSemantic proximity Read ↗

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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 ↗

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