Genetic Bases of Bicuspid Aortic Valve: The Contribution of Traditional and High-Throughput Sequencing Approaches on Research and Diagnosis

Bicuspid aortic valve (BAV) is a common (0.5–2.0% of general population) congenital heart defect with increased prevalence of aortic dilatation and dissection. BAV has an autosomal dominant inheritance with reduced penetrance and variable expressivity. BAV has been described as an isolated trait or...

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Bibliographic Details
Main Authors: Betti Giusti, Elena Sticchi, Rosina De Cario, Alberto Magi, Stefano Nistri, Guglielmina Pepe
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-08-01
Series:Frontiers in Physiology
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Online Access:http://journal.frontiersin.org/article/10.3389/fphys.2017.00612/full