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Article

Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome.

European journal of human genetics : EJHG - 1 Sept 2005

Cooper Wendy N, Luharia Anita, Evans Gail A, Raza Hussain, Haire Antonita C, Grundy Richard, Bowdin Sarah C, Riccio Andrea, Sebastio Gianfranco, Bliek Jet, Schofield Paul N, Reik Wolf, Macdonald Fiona, Maher Eamonn R

Abstract excerpt

Beckwith-Wiedemann Syndrome (BWS) results from mutations or epigenetic events involving imprinted genes at 11p15.5. Most BWS cases are sporadic and uniparental disomy (UPD) or putative imprinting errors predominate in this group. Sporadic cases with putative imprinting defects may be subdivided into (a) those with loss of imprinting (LOI) of IGF2 and H19 hypermethylation and silencing due to a defect in a distal...

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Identifiers

PMID: 15999116
DOI: 10.1038/sj.ejhg.5201463

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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