Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics

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...

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Bibliographic Details
Main Authors: 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.
Format: Artigo
Language:Inglês
Published: National Academy of Sciences 2014
Subjects:
Biological Sciences
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4151769/
https://ncbi.nlm.nih.gov/pubmed/25107291
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1412509111
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