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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Detalles Bibliográficos
Autores principales: De Crescenzo, Agostina, Coppola, Filomena, Falco, Pietro, Bernardo, Italo, Ausanio, Gaetano, Cerrato, Flavia, Falco, Luigi, Riccio, Andrea
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2011
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3133689/
https://www.ncbi.nlm.nih.gov/pubmed/21571108
http://dx.doi.org/10.1016/j.ejmg.2011.04.009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3133689/
https://www.ncbi.nlm.nih.gov/pubmed/21571108
http://dx.doi.org/10.1016/j.ejmg.2011.04.009

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