Article
Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.
Proceedings of the National Academy of Sciences of the United States of America - 26 Aug 2014
Longoni Mauro, High Frances A, Russell Meaghan K, Kashani Alireza, Tracy Adam A, Coletti Caroline M, Hila Regis, Shamia Ahmed, Wells Julie, Ackerman Kate G, Wilson Jay M, Bult Carol J, Lee Charles, Lage Kasper, Pober Barbara R, Donahoe Patricia K
Abstract excerpt
Congenital diaphragmatic hernia (CDH) is a common and severe birth defect. Despite its clinical significance, the genetic and developmental pathways underlying this disorder are incompletely understood. In this study, we report a catalog of variants detected by a whole exome sequencing study on 275 individuals with CDH. Predicted pathogenic variants in genes previously identified in either humans or mice with...
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