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Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith–Wiedemann Syndrome

BACKGROUND: Beckwith–Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by genetic or epigenetic alterations at two imprinting centers (ICs) in the 11p15.5 region. Delineation of the molecular defects is important for prognosis and predicting familial recurrence. We evaluated epigen...

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Detalles Bibliográficos
Autores principales: Kim, Hwa Young, Shin, Choong Ho, Lee, Young Ah, Shin, Chang Ho, Kim, Gu-Hwan, Ko, Jung Min
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society for Laboratory Medicine 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9277041/
https://www.ncbi.nlm.nih.gov/pubmed/35765875
http://dx.doi.org/10.3343/alm.2022.42.6.668