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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Egile Nagusiak: Boonen, Susanne E, Hahnemann, Johanne M D, Mackay, Deborah, Tommerup, Niels, Brøndum-Nielsen, Karen, Tümer, Zeynep, Grønskov, Karen
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Publishing Group 2012
Gaiak:
Short Report
Sarrera elektronikoa: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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