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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, a...

Topics

Adolescent
Adult
Child
Child, Preschool
Cohort Studies
DNA Methylation
Female
Genotype
Humans
In Situ Hybridization, Fluorescence
Infant
Lymphocytes
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Microsatellite Repeats

Phenotype

Prader-Willi Syndrome

Sequence Deletion

Source

Identifiers

PMID: 11216664
DOI: 10.1089/109065700750065144

Genes

SNRPN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-11216664-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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