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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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
Jezik:Inglês
Izdano: National Academy of Sciences 2014
Teme:
Biological Sciences
Online dostop: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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