Epimutation profiling in Beckwith-Wiedemann syndrome: relationship with assisted reproductive technology

BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder associated with abnormalities in 11p15.5 imprinted genes. The most common cause is loss of methylation (epimutation) at the imprinting control centre 2 (IC2/KvDMR1). Most IC2 epimutations occur sporadically but an asso...

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Detalles Bibliográficos
Autores principales: Tee, Louise, Lim, Derek HK, Dias, Renuka P, Baudement, Marie-Odile, Slater, Amy A, Kirby, Gail, Hancocks, Tom, Stewart, Helen, Hardy, Carol, Macdonald, Fiona, Maher, Eamonn R
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3878854/
https://www.ncbi.nlm.nih.gov/pubmed/24325814
http://dx.doi.org/10.1186/1868-7083-5-23

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