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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Vydáno v:Hum Genet
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
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Article
On-line přístup: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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