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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Bibliographic Details

Published in:	Human molecular genetics Vol. 24; no. 16; p. 4764
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
Format:	Journal Article
Language:	English
Published:	England 15.08.2015
Subjects:	Congenital Abnormalities - genetics Female Hernia, Diaphragmatic - genetics Humans Male Mutation, Missense
ISSN:	1460-2083, 1460-2083
Online Access:	Get more information
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