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Article

Beckwith-Wiedemann syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics - 15 Aug 2010

Choufani Sanaa, Shuman Cheryl, Weksberg Rosanna

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder characterized by overgrowth, tumor predisposition, and congenital malformations. Approximately 85% of reported BWS cases are sporadic, while the remaining 15% are familial. BWS is caused by epigenetic or genomic alterations which disrupt genes in one or both of the two imprinted domains on chromosome 11p15.5. In each domain, an imprinting center...

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Source

Identifiers

PMID: 20803657
DOI: 10.1002/ajmg.c.30267

Genes

IGF2

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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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