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Article

An atypical case of hypomethylation at multiple imprinted loci.

European journal of human genetics : EJHG - 1 Mar 2011

Baple Emma L, Poole Rebecca L, Mansour Sahar, Willoughby Catherine, Temple I Karen, Docherty Louise E, Taylor Rohan, Mackay Deborah J G

Abstract excerpt

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are caused by genetic and epigenetic mutations of the imprinted gene cluster on chromosome 15q13. Although the imprinting mutations causing PWS and AS are essentially opposite in nature, remarkably, a small number of patients have been report...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21206512
DOI: 10.1038/ejhg.2010.218
PMCID: PMC3061991

Genes

GNAS
PEG3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21206512-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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