Epigenetic mosaicism and cell burden in Beckwith-Wiedemann Syndrome due to loss of methylation at imprinting control region 2.
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DOI: 10.1101/mcs.a006115
Abstract: 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… read more here.
Keywords: mosaicism; loss methylation; beckwith wiedemann; wiedemann syndrome ... See more keywords