Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia

Volume: 136, Issue: 6, Pages: 679 - 691
Published: Mar 16, 2017
Abstract
Congenital Diaphragmatic Hernia (CDH) is a common and often lethal birth defect characterized by diaphragmatic structural defects and pulmonary hypoplasia. CDH is isolated in 60% of newborns, but may also be part of a complex phenotype with additional anomalies. We performed whole exome sequencing (WES) on 87 individuals with isolated or complex CDH and on their unaffected parents, to assess the contribution of de novo mutations in the etiology...
Paper Details
Title
Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia
Published Date
Mar 16, 2017
Volume
136
Issue
6
Pages
679 - 691
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