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Article

Prader-Willi syndrome: genetic tests and clinical findings.

Genetic testing - 1 Jan 2000

Fridman C, Varela M C, Kok F, Setian N, Koiffmann C P

Abstract excerpt

Here we describe the genetic studies performed in 53 patients with the suspected diagnosis of Prader-Willi syndrome (PWS). PWS is characterized by neonatal hypotonia, hypogonadism, delayed psychomotor development, hyperphagia, obesity, short stature, small hands and feet, learning disabilities, and obsessive-compulsive behavior. Through the methylation analysis of the SNRPN gene, microsatellite studies of loci...

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Source

Identifiers

PMID: 11216664
DOI: 10.1089/109065700750065144

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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