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Article

Derivation and investigation of the first human cell-based model of Beckwith-Wiedemann syndrome.

Epigenetics - 1 Dec 2021

Chang Suhee, Hur Stella K, Naveh Natali S Sobel, Thorvaldsen Joanne L, French Deborah L, Gagne Alyssa L, Jobaliya Chintan D, Anguera Montserrat C, Bartolomei Marisa S, Kalish Jennifer M

Abstract excerpt

Genomic imprinting is a rare form of gene expression in mammals in which a small number of genes are expressed in a parent-of-origin-specific manner. The aetiology of human imprinting disorders is diverse and includes chromosomal abnormalities, mutations, and epigenetic dysregulation of imprinted genes. The most common human imprinting disorder is Beckwith-Wiedemann syndrome (BWS), frequently caused by...

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Identifiers

PMID: 33300436
DOI: 10.1080/15592294.2020.1861172
PMCID: PMC8813081

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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