Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities

Clinically significant cardiovascular malformations (CVMs) occur in 5–8 per 1000 live births. Recurrent copy number variations (CNVs) are among the known causes of syndromic CVMs, accounting for an important fraction of cases. We hypothesized that many additional rare CNVs also cause CVMs and can be...

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Auteurs principaux: Lalani, Seema R, Shaw, Chad, Wang, Xueqing, Patel, Ankita, Patterson, Lance W, Kolodziejska, Katarzyna, Szafranski, Przemyslaw, Ou, Zhishuo, Tian, Qi, Kang, Sung-Hae L, Jinnah, Amina, Ali, Sophia, Malik, Aamir, Hixson, Patricia, Potocki, Lorraine, Lupski, James R, Stankiewicz, Pawel, Bacino, Carlos A, Dawson, Brian, Beaudet, Arthur L, Boricha, Fatima M, Whittaker, Runako, Li, Chumei, Ware, Stephanie M, Cheung, Sau Wai, Penny, Daniel J, Jefferies, John Lynn, Belmont, John W
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2013
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3548268/
https://ncbi.nlm.nih.gov/pubmed/22929023
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.155
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