No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith–Wiedemann Syndrome

Beckwith–Wiedemann syndrome (BWS) is an overgrowth syndrome, which, in 50–60% of sporadic cases, is caused by hypomethylation of KCNQ1OT1 differentially methylated region (DMR) at chromosome 11p15.5. The underlying defect of this hypomethylation is largely unknown. Recently, recessive mutations of t...

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Bibliographic Details
Main Authors: Boonen, Susanne E, Hahnemann, Johanne M D, Mackay, Deborah, Tommerup, Niels, Brøndum-Nielsen, Karen, Tümer, Zeynep, Grønskov, Karen
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2012
Subjects:
Short Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3234508/
https://ncbi.nlm.nih.gov/pubmed/21863059
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.140
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