Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith‐Wiedemann region

BACKGROUND: Beckwith‐Wiedemann syndrome (BWS) is an overgrowth disorder with increased risk of paediatric tumours. The aetiology involves epigenetic and genetic alterations affecting the 11p15 region, methylation of the differentially methylated DMR2 region being the most common defect, while less f...

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Detalhes bibliográficos
Main Authors: Russo, S, Finelli, P, Recalcati, M P, Ferraiuolo, S, Cogliati, F, Bernardina, B Dalla, Tibiletti, M G, Agosti, M, Sala, M, Bonati, M T, Larizza, L
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2006
Assuntos:
Electronic Letter
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2649021/
https://ncbi.nlm.nih.gov/pubmed/16882733
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.038398
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