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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Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Nature Publishing Group 2013
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Article
Online-ссылка: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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