Single gene disorders associated with congenital diaphragmatic hernia

Abstract excerpt

Congenital diaphragmatic hernia (CDH) is a common birth defect with a high pre- and postnatal mortality. Although the majority of diaphragmatic hernias occur as isolated malformations, additional major and minor anomalies are common and are present in more than 40% of patients. There are compelling data for the importance of genetic factors in the etiology of CDH, but the pathogenesis and the causative genes for...

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