Rare Copy Number Variants in Patients with Congenital Conotruncal Heart Defects

BACKGROUND: Previous studies using different cardiac phenotypes, technologies and designs suggest a burden of large, rare or de novo copy number variants (CNVs) in subjects with congenital heart defects (CHD). We sought to identify disease-related CNVs, candidate genes and functional pathways in a l...

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Publicado en:Birth Defects Res
Main Authors: Xie, Hongbo M., Werner, Petra, Stambolian, Dwight, Bailey-Wilson, Joan E., Hakonarson, Hakon, White, Peter S., Taylor, Deanne M., Goldmuntz, Elizabeth
Formato: Artigo
Idioma:Inglês
Publicado: 2017
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5407323/
https://ncbi.nlm.nih.gov/pubmed/28398664
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/bdra.23609
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