Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1

The imprinted expression of the IGF2 and H19 genes is controlled by the imprinting control region 1 (ICR1) located at chromosome 11p15.5. DNA methylation defects involving ICR1 result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith–Wiedemann syndrome (maternal...

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Detalhes bibliográficos
Main Authors: Poole, Rebecca L, Leith, Donald J, Docherty, Louise E, Shmela, Mansur E, Gicquel, Christine, Splitt, Miranda, Temple, I Karen, Mackay, Deborah J G
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2012
Assuntos:
Short Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3260935/
https://ncbi.nlm.nih.gov/pubmed/21863054
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.166
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