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Article

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

Vascular and endovascular surgery - 1 Apr 2017

Cortini Francesca, Marinelli Barbara, Romi Silvia, Seresini Agostino, Pesatori Angela Cecilia, Seia Manuela, Montano Nicola, Bassotti Alessandra

Abstract excerpt

Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain ( COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Gly1047Asp, identified using next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on her relatives, which present different clinical phenotypes,...

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PMID: 28183226
DOI: 10.1177/1538574417692114

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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