Case report: Complex arterial findings in vascular ehlers-danlos syndrome with a novel COL3A1 variant and death at young age

Vascular Ehlers-Danlos syndrome (vEDS) is a genetic disease caused by a pathogenic mutation in the COL3A1 gene.Despite its severe course, the rarity and extreme Calcium D Glucarate clinical variability of the disease can pose significant obstacles to a timely diagnosis.Early and accurate diagnosis may lead to improved patient outcomes by providing

read more