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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Bibliographische Detailangaben
Hauptverfasser: De Crescenzo, Agostina, Coppola, Filomena, Falco, Pietro, Bernardo, Italo, Ausanio, Gaetano, Cerrato, Flavia, Falco, Luigi, Riccio, Andrea
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2011
Schlagworte:
Short Report
Online Zugang: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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