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Deciphering Epigenetic Backgrounds in a Korean Cohort with Beckwith-Wiedemann Syndrome.

Annals of laboratory medicine - 1 Nov 2022

Kim Hwa Young, Shin Choong Ho, Lee Young Ah, Shin Chang Ho, Kim Gu-Hwan, Ko Jung Min

Abstract excerpt

Background: Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder caused by genetic or epigenetic alterations at two imprinting centers (ICs) in the 11p15.5 region. Delineation of the molecular defects is important for prognosis and predicting familial recurrence. We evaluated epigenetic alterations and potential epigenotype-phenotype correlations in Korean children with BWS. Methods: Forty...

Topics

Beckwith-Wiedemann Syndrome
DNA Methylation
Genomic Imprinting
Humans
Phenotype
Republic of Korea
Uniparental Disomy

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 35765875
DOI: 10.3343/alm.2022.42.6.668
PMCID: PMC9277041

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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