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Article

Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.

Journal of medical genetics - 1 Dec 2000

Engel J R, Smallwood A, Harper A, Higgins M J, Oshimura M, Reik W, Schofield P N, Maher E R

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is a model imprinting disorder resulting from mutations or epigenetic events involving imprinted genes at chromosome 11p15.5. Thus, germline mutations in CDKN1C, uniparental disomy (UPD), and loss of imprinting of IGF2 and other imprinted genes have been implicated. Many familial BWS cases have germline CDKN1C mutations. However, most BWS cases are sporadic and UPD or putative...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 11106355
DOI: 10.1136/jmg.37.12.921
PMCID: PMC1734494

Genes

IGF2
KCNQ1

Provenance

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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Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome.PMID 11106355Read ↗

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Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.Semantic proximity Read ↗

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