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

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...

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Veröffentlicht in:	Revista medíca de Chile 2005-01, Vol.133 (1), p.33-41
Hauptverfasser:	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
Format:	Artikel
Sprache:	spa
Schlagworte:	Adolescent Adult Child Child, Preschool Chile Female Gene Deletion Humans Infant Infant, Newborn Male Methylation Phenotype Prader-Willi Syndrome - diagnosis Prader-Willi Syndrome - genetics Retrospective Studies
Online-Zugang:	Volltext
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