A Novel Frameshift COL3A1 Variant in Vascular Ehlers-Danlos Syndrome
Abstract
Ehlers-Danlos syndromes (EDSs) are a group of heritable connective tissue disorders with distinct genetic etiologies. Of the 13 currently recognized types of EDS, the vascular type EDS (vEDS) is generally considered the most severe and is associated with a decreased life expectancy due to spontaneous arterial, intestinal, and or uterine rupture. Diagnosis of vEDS is supported by genetic testing confirming the presence of pathogenic variations in...
Paper Details
Title
A Novel Frameshift COL3A1 Variant in Vascular Ehlers-Danlos Syndrome
Published Date
Nov 1, 2019
Journal
Volume
61
Pages
472.e9 - 472.e13
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