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

24 Aug 2017

Abstract excerpt

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 associated with syndromic conditions [e.g. Marfan or Loeys-Dietz syndrome (MFS, LDS)].Identification of a syndromic...

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PMID: 28883797
DOI: 10.3389/fphys.2017.00612

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