De novo copy number variants are associated with congenital diaphragmatic hernia

BACKGROUND: Congenital diaphragmatic hernia (CDH) is a common birth defect with significant morbidity and mortality. Although the etiology of CDH remains poorly understood, studies from animal models and patients with CDH suggest that genetic factors play an important role in the development of CDH....

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Detalhes bibliográficos
Main Authors: Yu, Lan, Wynn, Julia, Ma, Lijiang, Guha, Saurav, Mychaliska, George B., Crombleholme, Timothy M., Azarow, Kenneth S., Lim, Foong Yen, Chung, Dai H., Potoka, Douglas, Warner, Brad W., Bucher, Brian, LeDuc, Charles A., Costa, Katherine, Stolar, Charles, Aspelund, Gudrun, Arkovitz, Marc, Chung, Wendy K.
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3696999/
https://ncbi.nlm.nih.gov/pubmed/23054247
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2012-101135
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