Article
[Prader-Willi syndrome].
Annali dell'Istituto superiore di sanita - 1 Jan 1999
Beccaria L, Bosio L, Benzi F, Bregani P, Achutegui I, Chiumello G, Livieri C, Trifirò G, de Toni T, Iughetti L, Ragusa L, Salvatoni A, Tonini G, Corrias A, Crinò A
Abstract excerpt
Prader-Willi syndrome (PWS) is the most frequent cause of secondary obesity, characterized by neonatal hypotonia, dysmorphic facies, acromicria, hypogonadism, stunted growth, obesity, behavioural disturbances and cognitive impairment. Clinical diagnosis is confirmed by alteration of imprinted genes on the proximal long arm of chromosome 15 (15q11-13) for deletion, translocation, uniparental disomy for maternal...
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