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Article

A genetic model for the Prader-Willi syndrome and its implication for Angelman syndrome.

Human genetics - 1 Jan 1992

Kennerknecht I

Abstract excerpt

Sporadic cases of Prader-Willi syndrome (PWS) are associated with the physical absence of the paternal Prader-Willi chromosome region (PWCR) by deletion 15q11-13, by segmental maternal heterodisomy or by chromosome rearrangements resulting in homozygosity for maternal PWCR. In isolated/familial cases, it is proposed that the expression of PWS depends on the functional absence caused by mutated gene(s) within the...

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Identifiers

PMID: 1427794
DOI: 10.1007/BF00210750

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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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