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Alternative mechanisms associated with silencing of CDKN1C in Beckwith–Wiedemann syndrome

Background: Mutations in the imprinted gene CDKN1C account for approximately 10% of Beckwith–Wiedemann syndrome (BWS) cases. Fibroblasts from BWS patients with loss of methylation (LOM) at the imprinting control region (ICR) KvDMR1 have reduced CDKN1C expression. Another group of BWS patients with d...

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Detalhes bibliográficos
Main Authors: Diaz-Meyer, N, Yang, Y, Sait, S, Maher, E, Higgins, M
Formato: Artigo
Idioma:Inglês
Publicado em: BMJ Group 2005
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1736119/
https://ncbi.nlm.nih.gov/pubmed/16061564
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2004.030593
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