Genome-wide enrichment of damaging de novo variants in patients with isolated and complex Congenital Diaphragmatic Hernia

Congenital Diaphragmatic Hernia (CDH) is a common and often lethal birth defect characterized by diaphragmatic structural defects and pulmonary hypoplasia. CDH is isolated in 60% of newborns, but may also be part of a complex phenotype with additional anomalies. We performed whole exome sequencing (...

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Detalhes bibliográficos
Publicado no:Hum Genet
Main Authors: Longoni, Mauro, High, Frances A., Qi, Hongjian, Joy, Maliackal P., Hila, Regis, Coletti, Caroline M., Wynn, Julia, Loscertales, Maria, Shan, Linshan, Bult, Carol J., Wilson, Jay M., Shen, Yufeng, Chung, Wendy K., Donahoe, Patricia K.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5453716/
https://ncbi.nlm.nih.gov/pubmed/28303347
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00439-017-1774-y
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