Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome

BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder with a population frequency of approximately 1 in 10,000. The most common epigenetic defect in BWS is a loss of methylation (LOM) at the 11p15.5 imprinting centre, KCNQ1OT1 TSS-DMR, and affects 50% of cases. We hypothesised that...

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Detalles Bibliográficos
Autores principales: Dagar, Vinod, Hutchison, Wendy, Muscat, Andrea, Krishnan, Anita, Hoke, David, Buckle, Ashley, Siswara, Priscillia, Amor, David J., Mann, Jeffrey, Pinner, Jason, Colley, Alison, Wilson, Meredith, Sachdev, Rani, McGillivray, George, Edwards, Matthew, Kirk, Edwin, Collins, Felicity, Jones, Kristi, Taylor, Juliet, Hayes, Ian, Thompson, Elizabeth, Barnett, Christopher, Haan, Eric, Freckmann, Mary-Louise, Turner, Anne, White, Susan, Kamien, Ben, Ma, Alan, Mackenzie, Fiona, Baynam, Gareth, Kiraly-Borri, Cathy, Field, Michael, Dudding-Byth, Tracey, Algar, Elizabeth M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6117921/
https://www.ncbi.nlm.nih.gov/pubmed/30165906
http://dx.doi.org/10.1186/s13148-018-0546-4

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