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Genetic analysis of <i>de novo</i> variants reveals sex differences in complex and isolated congenital diaphragmatic hernia and indicates <i>MYRF</i> as a candidate gene

2017-10-19

Abstract excerpt

Congenital diaphragmatic hernia (CDH) is one of the most common and lethal birth defects. Previous studies using exome sequencing support a significant contribution of coding de novo variants in complex CDH cases with additional anomalies and likely gene-disrupting (LGD) variants in isolated CDH cases. To further investigate the genetic architecture of CDH, we performed exome or genome sequencing in 283 proband-p...

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Literature Corpus work
0b0ebbae-4ab9-580a-a3a2-4e03683addd9
DOI
10.1101/206037
Open publication

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