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Article

Rare Variants in NR2F2 Cause Congenital Heart Defects in Humans

1 Apr 2014

Abstract excerpt

Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly understood. We performed exome sequencing in 13 parent-offspring trios and 112 unrelated individuals with nonsyndromic AVSDs and identified five rare missense...

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PMID: 24702954
DOI: 10.1016/j.ajhg.2014.03.007

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