Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies

In several laboratories, genome-wide array analysis has been implemented as the first tier diagnostic test for the identification of copy number changes in patients with mental retardation and/or congenital anomalies. The identification of a pathogenic copy number variant (CNV) is not only important...

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主要な著者: Nowakowska, Beata A, de Leeuw, Nicole, Ruivenkamp, Claudia AL, Sikkema-Raddatz, Birgit, Crolla, John A, Thoelen, Reinhilde, Koopmans, Marije, den Hollander, Nicolette, van Haeringen, Arie, van der Kevie-Kersemaekers, Anne-Marie, Pfundt, Rolph, Mieloo, Hanneke, van Essen, Ton, de Vries, Bert B A, Green, Andrew, Reardon, Willie, Fryns, Jean-Pierre, Vermeesch, Joris R
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2012
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Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3260932/
https://ncbi.nlm.nih.gov/pubmed/21915152
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.157
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