Dataset Information
Uk10k_rare_chd_rel_2012_07_05-sc-20120727 - samples
Ontology highlight
ABSTRACT:
PROVIDER: EGAD00001000210 | EGA |
REPOSITORIES: EGA
Publications
Rare variants in NR2F2 cause congenital heart defects in humans.
American journal of human genetics 20140401 4
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 signifi ...[more]