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Maternal Hypomethylation of KvDMR in a Monozygotic Male Twin Pair Discordant for Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann syndrome (BWS; OMIM 130650) is a heterogeneous overgrowth syndrome characterized by visceromegaly, macroglossia, tumor predisposition, and other congenital abnormalities. BWS is usually associated with abnormalities of chromosome 11p15, including (epi)genetic changes, paternal dis...

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Detalhes bibliográficos
Main Authors: Elalaoui, S.C., Garin, I., Sefiani, A., Perez de Nanclares, G.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3919483/
https://ncbi.nlm.nih.gov/pubmed/24550765
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000356689
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