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Article

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

Molecular genetics & genomic medicine - 1 Sept 2021

Ruscitti Federica, Trevisan Lucia, Rosti Giulia, Gotta Fabio, Cianflone Annalia, Geroldi Alessandro, Origone Paola, Pichiecchio Anna, Viglio Simona, Iascone Maria, Mandich Paola

Abstract excerpt

BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a heritable connective tissue disorder caused by defects in the type III collagen protein. It is generally considered the most severe form of Ehlers-Danlos syndrome (EDS) due to an increased risk of spontaneous artery or organ rupture. vEDS has an extremely heterogeneous presentation and muscle rupture is considered a minor diagnostic criterium. METHODS: A...

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Identifiers

PMID: 34318601
DOI: 10.1002/mgg3.1753
PMCID: PMC8457703

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A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.PMID 34318601Read ↗

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