Whole-Exome Sequencing in Fetuses with Congenital Diaphragmatic Hernias: Known and Novel Genetic Mutation

Congenital diaphragmatic hernias (CDH) are structural defects associated with significant mortality and morbidity. One-third are thought to have a genetic cause. Single gene associations are being explored with techniques such as whole-exome sequencing. We investigated whether fetuses with CDH at our institution had known or novel genetic mutation.

Source: Journal of the American College of Surgeons - September 30, 2020 Category: Surgery Authors: Marisa E. Schwab, Shan Dong, Stephan J. Sanders, Tippi C. MacKenzie Tags: Pediatric surgery Source Type: research