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

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 (...

Ausführliche Beschreibung