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Journal article

Rare variants in NR2F2 cause congenital heart defects in humans.

Abstract:

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 variants (two of which arose de novo) in the highly conserved gene NR2F2, a very sign...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1016/j.ajhg.2014.03.007

Authors


Al Turki, S More by this author
Manickaraj, AK More by this author
Mercer, CL More by this author
Gerety, SS More by this author
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Publisher:
Cell Press Publisher's website
Journal:
American journal of human genetics Journal website
Volume:
94
Issue:
4
Pages:
574-585
Publication date:
2014-04-05
DOI:
EISSN:
1537-6605
ISSN:
0002-9297
URN:
uuid:f460afd9-1c06-4fb6-8459-84117610d835
Source identifiers:
462281
Local pid:
pubs:462281

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