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Article

COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture.

The British journal of dermatology - 1 Aug 1996

Pope F M, Narcisi P, Nicholls A C, Germaine D, Pals G, Richards A J

Abstract excerpt

We have recently analysed by histological, protein and molecular DNA techniques 23 mutations of the collagen III gene (COL3A1), most of which cause premature arterial fragility, thin skin and variants of vascular Ehlers-Danlos syndrome. There were 14 glycine substitutions between residues 637 and 1021, eight exon skips between exons 7 and 45 and one small inframe deletion. The glycine substitutions produce a...

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PMID: 8881656

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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.

Related research

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Research trail→

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COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture.PMID 8881656Read ↗

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

Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes: expanding the clinical phenotype based on additional case reports.Semantic proximity Read ↗

A new COL3A1 mutation in Ehlers-Danlos syndrome type IV.Semantic proximity Read ↗

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

Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.Semantic proximity Read ↗

A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family.Semantic proximity Read ↗

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibilitySemantic proximity Read ↗

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

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

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

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

Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.Semantic proximity Read ↗

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