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[Clinical, genetic and molecular features in 45 patients with Prader-Willi syndrome].

Revista medica de Chile - 1 Jan 2005

Cortés M Fanny, Alliende R M Angélica, Barrios R Andrés, Curotto L Bianca, Santa María V Lorena, Barraza O Ximena, Troncoso A Ledia, Mellado S Cecilia, Pardo V Rosa

Abstract excerpt

BACKGROUND: Prader-Willi syndrome (PWS) is a neurogenetic disease characterized by neonatal hypotonia, retarded mental and motor development, hypogonadism, hyperphagia, morbid obesity and dysmorphic facial features. It has an incidence of 1:12.000-15.000 newborns and is caused by abnormalities in genes located in 15q11q13. PWS is one of the most frequent genetic disorders and microdeletion syndromes. It is also...

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PMID: 15768148
DOI: 10.4067/s0034-98872005000100005

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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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