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Epigenetic mosaicism and cell burden in Beckwith–Wiedemann syndrome due to loss of methylation at imprinting control region 2

Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth disorder caused by epigenetic alterations on Chromosome 11p15.5. Most molecular changes are sporadic and are thought to occur in a mosaic pattern. Thereby, the distribution of affected cells differs between tissues for each individual, which can...

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Detalles Bibliográficos
Autores principales: Duffy, Kelly A., Hathaway, Evan R., Klein, Steven D., Ganguly, Arupa, Kalish, Jennifer M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751414/
https://www.ncbi.nlm.nih.gov/pubmed/34697083
http://dx.doi.org/10.1101/mcs.a006115