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Article

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

Cold Spring Harbor molecular case studies - 1 Dec 2021

Duffy Kelly A, Hathaway Evan R, Klein Steven D, Ganguly Arupa, Kalish Jennifer M

Abstract excerpt

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 complicate genotype-phenotype correlations. In two of the BWS molecular subtypes, tissue mosaicism has been...

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PMID: 34697083
DOI: 10.1101/mcs.a006115
PMCID: PMC8751414

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