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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Detalhes bibliográficos
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.
Formato: Artigo
Idioma:Inglês
Publicado em: National Academy of Sciences 2014
Assuntos:
Biological Sciences
Acesso em linha: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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