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Article

Epimutations in Prader-Willi and Angelman syndromes: a molecular study of 136 patients with an imprinting defect.

American journal of human genetics - 1 Mar 2003

Buiting Karin, Gross Stephanie, Lich Christina, Gillessen-Kaesbach Gabriele, el-Maarri Osman, Horsthemke Bernhard

Abstract excerpt

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurogenetic disorders that are caused by the loss of function of imprinted genes in 15q11-q13. In a small group of patients, the disease is due to aberrant imprinting and gene silencing. Here, we describe the molecular analysis of 51 patients with PWS and 85 patients with AS who have such a defect. Seven patients with PWS (14%) and eight patients with AS...

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Share to Angelman Syndrome
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 15

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Source

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Identifiers

PMID: 12545427
DOI: 10.1086/367926
PMCID: PMC1180233

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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