Whole Exome Sequencing Identifies de Novo Mutations in GATA6 Associated with Congenital Diaphragmatic Hernia

BACKGROUND: Congenital diaphragmatic hernia (CDH) is a common birth defect affecting 1 in 3,000 births. It is characterized by herniation of abdominal viscera through an incompletely formed diaphragm. Although chromosomal anomalies and mutations in several genes have been implicated, the cause for m...

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Hauptverfasser: Yu, Lan, Bennett, James T., Wynn, Julia, Carvill, Gemma L., Cheung, Yee Him, Shen, Yufeng, Mychaliska, George B., Azarow, Kenneth S., Crombleholme, Timothy M., Chung, Dai H., Potoka, Douglas, Warner, Brad W., Bucher, Brian, Lim, Foong-Yen, Pietsch, John, Stolar, Charles, Aspelund, Gudrun, Arkovitz, Marc S., Mefford, Heather, Chung, Wendy K.
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2014
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3955383/
https://ncbi.nlm.nih.gov/pubmed/24385578
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2013-101989
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