Article

Novel compound heterozygous COL3A1 variants are associated with Vascular Ehlers-Danlos Syndrome

2024-01-31

Abstract excerpt

<h4>Aim: </h4> : Vascular Ehlers-Danlos Syndrome (vEDS) is an autosomal- dominant inherited disorder result on collagen type III alpha-1 chain (COL3A1) gene mutation. vEDS is associated with a decreased life expectancy due to spontaneous arterial, intestinal, and uterine rupture. The diagnosis of vEDS is supported by genetic testing confirming the presence of pathogenic variations in COL3A1. Although how COL3A1 mu...

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Literature Corpus work: e51127c3-f9c4-57d9-ba06-b0301ad394ad
DOI: 10.22541/au.170668671.14871851/v1

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