A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith–Wiedemann syndrome

The overgrowth disorder Beckwith–Wiedemann syndrome (BWS) is associated with dysregulation of imprinted genes at chromosome 11p15.5. The molecular defects are heterogeneous but most of the cases are associated with defective DNA methylation at either one of two Imprinting Control Regions (IC1 and IC...

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Main Authors: De Crescenzo, Agostina, Coppola, Filomena, Falco, Pietro, Bernardo, Italo, Ausanio, Gaetano, Cerrato, Flavia, Falco, Luigi, Riccio, Andrea
Formato: Artigo
Idioma:Inglês
Publicado: Elsevier 2011
Assuntos:
Short Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC3133689/
https://ncbi.nlm.nih.gov/pubmed/21571108
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2011.04.009
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