Autor: Xianda Wei
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Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review
Vascular Ehlers–Danlos syndrome (vEDS), the most severe type of Ehlers–Danlos syndrome, is caused by an autosomal-dominant defect in the COL3A1 gene. In this report, we describe the clinical history, specific phenotype, and genetic diagnosis of a man w…