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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...
Autores principales: | Duffy, Kelly A., Hathaway, Evan R., Klein, Steven D., Ganguly, Arupa, Kalish, Jennifer M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory Press
2021
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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 |
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