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Article

Imprinting mutations in the Beckwith—Wiedemann syndrome suggested by an altered imprinting pattern in the <i>IGF2–H19</i> domain

1 Jan 1995

Abstract excerpt

Regional regulations of parental imprinting in the IGF2-H19 domain of imprinted genes was studied in the Beckwith-Wiedemann syndrome (BWS). We identified BWS patients who had inherited a normal biparental chromosome complement of the chromosome 11p15.5 region (where IGF2 and H19 reside), but had an altered pattern of allelic methylation of both genes, with the maternal chromosome carrying a parental imprinting...

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Identifiers

PMID: 8634713
DOI: 10.1093/hmg/4.12.2379

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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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