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Article

Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome.

Journal of medical genetics - 1 Mar 2021

Baker Samuel W, Duffy Kelly A, Richards-Yutz Jennifer, Deardorff Matthew A, Kalish Jennifer M, Ganguly Arupa

Abstract excerpt

BACKGROUND: Beckwith-Wiedemann Syndrome (BWS) is characterised by overgrowth and tumour predisposition. While multiple epigenetic and genetic mechanisms cause BWS, the majority are caused by methylation defects in imprinting control regions on chromosome 11p15.5. Disease-causing methylation defects are often mosaic within affected individuals. Phenotypic variability among individuals with chromosome 11p15.5...

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Source

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Identifiers

PMID: 32430359
DOI: 10.1136/jmedgenet-2019-106498
PMCID: PMC7959163

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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