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Article

The genetic basis for Prader-Willi syndrome: the importance of imprinted genes.

Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Nov 1997

Brøndum-Nielsen K

Abstract excerpt

The genetic basis of Prader-Willi syndrome involves imprinted genes on the proximal long arm of chromosome 15. The basic defect appears to be the absence of function of genes that are normally expressed in a monoallelic fashion only from the paternal chromosome. In 60-70% of patients with Prader-Willi syndrome, the genetic defect is a deletion in the area of 15q11-13 on the paternal chromosome. A further 25-30%...

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Source

Identifiers

PMID: 9401540
DOI: 10.1111/j.1651-2227.1997.tb18370.x

Genes

SNRPN

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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