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Article

Increased burden ofde novopredicted deleterious variants in complex congenital diaphragmatic hernia

1 Jun 2015

Abstract excerpt

Congenital diaphragmatic hernia (CDH) is a serious birth defect that accounts for 8% of all major birth anomalies. Approximately 40% of cases occur in association with other anomalies. As sporadic complex CDH likely has a significant impact on reproductive fitness, we hypothesized that de novo variants would account for the etiology in a significant fraction of cases. We performed exome sequencing in 39 CDH trios...

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PMID: 26034137
DOI: 10.1093/hmg/ddv196

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