Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review

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 who died of vEDS. The precise diagnosis of this c...

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Bibliographic Details
Main Authors:	Xianda Wei, Xu Zhou, BoBo Xie, Meizhen Shi, Chunrong Gui, Bo Liu, Caiyan Li, Chi Zhang, Jiefeng Luo, Cundong Mi, Baoheng Gui
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2023-12-01
Series:	Frontiers in Genetics
Subjects:	vascular Ehlers–Danlos syndrome vascular rupture COL3A1 novel mutation genotype–phenotype correlations
Online Access:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1246712/full

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