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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Genet
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: 2017
Gaiak:
Article
Sarrera elektronikoa: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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