Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

BACKGROUND: Beckwith-Wiedemann syndrome (BWS), a congenital overgrowth disorder with variable expressivity and a predisposition to tumorigenesis, results from disordered expression and/or function of imprinted genes at chromosome 11p15.5. There are no generally agreed clinical diagnostic criteria, w...

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Detalhes bibliográficos
Main Authors: Ibrahim, Abdulla, Kirby, Gail, Hardy, Carol, Dias, Renuka P, Tee, Louise, Lim, Derek, Berg, Jonathan, MacDonald, Fiona, Nightingale, Peter, Maher, Eamonn R
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4064264/
https://ncbi.nlm.nih.gov/pubmed/24982696
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1868-7083-6-11
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