Genetics in bicuspid aortic valve disease: Where are we?
Genetics in bicuspid aortic valve disease: Where are we?
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DOI：
10.1016/j.pcad.2020.06.005
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发表时间：
2020-07
影响因子：
9.1
通讯作者：
Prakash SK
中科院分区：
文献类型：
--
作者：
Bravo-Jaimes K;Prakash SK
Bicuspid aortic valve (BAV) is the most common congenital heart defect, found in up to 2% of the population and associated with a 30% lifetime risk of complications. BAV is inherited as an autosomal dominant trait with incomplete penetrance and variable expressivity due to a complex genetic architecture that involves many interacting genes. In this review, we highlight the current state of knowledge about BAV genetics, principles and methods for BAV gene discovery, clinical applications of BAV genetics, and important future directions.
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