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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محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: 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
التنسيق: Artigo
اللغة:Inglês
منشور في: Nature Publishing Group 2013
الموضوعات:
Article
الوصول للمادة أونلاين: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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