A maternal deletion upstream of the imprint control region 2 in 11p15 causes loss of methylation and familial Beckwith–Wiedemann syndrome

Beckwith–Wiedemann syndrome (BWS; OMIM #130650) is an overgrowth syndrome caused by different genetic or epigenetic alterations affecting imprinted regions on chromosome 11p15.5. Here we report a family with multiple offspring affected with BWS including giant omphalocoeles in which maternal transmi...

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發表在:Eur J Hum Genet
Main Authors: Beygo, Jasmin, Joksic, Ivana, Strom, Tim M, Lüdecke, Hermann-Josef, Kolarova, Julia, Siebert, Reiner, Mikovic, Zeljko, Horsthemke, Bernhard, Buiting, Karin
格式: Artigo
語言:Inglês
出版: Nature Publishing Group 2016
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC4989213/
https://ncbi.nlm.nih.gov/pubmed/26839037
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.3
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