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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Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
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Article
Acesso em linha: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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