Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a serious birth defect that accounts for 8% of all major birth anomalies. Approximately 40% of cases occur in association with other anomalies. As sporadic complex CDH likely has a significant impact on reproductive fitness, we hypothesized that de novo varia...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Yu, Lan, Sawle, Ashley D., Wynn, Julia, Aspelund, Gudrun, Stolar, Charles J., Arkovitz, Marc S., Potoka, Douglas, Azarow, Kenneth S., Mychaliska, George B., Shen, Yufeng, Chung, Wendy K.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2015
Assuntos:
Association Studies Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4512631/
https://ncbi.nlm.nih.gov/pubmed/26034137
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv196
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