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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Bibliografische gegevens
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMJ Group 2006
Onderwerpen:
Electronic Letter
Online toegang: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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