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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...
Autores principales: | Ibrahim, Abdulla, Kirby, Gail, Hardy, Carol, Dias, Renuka P, Tee, Louise, Lim, Derek, Berg, Jonathan, MacDonald, Fiona, Nightingale, Peter, Maher, Eamonn R |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4064264/ https://www.ncbi.nlm.nih.gov/pubmed/24982696 http://dx.doi.org/10.1186/1868-7083-6-11 |
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