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• W2039183090 abstract "Prader-Willi syndrome (PWS) is a complex human genetic disease that arises from lack of expression of paternally inherited imprinted genes on chromosome 15q11-q13. Identification of the imprinting control centre, novel imprinted genes and distinct phenotypes in PWS patients and mouse models has increased interest in this human obesity syndrome. In this review I focus on: (i) the chromosomal region and candidate genes associated with PWS, and the possible links with individual PWS phenotypes identified using mouse models; (ii) the metabolic and hormonal phenotypes in PWS; (iii) postmortem studies of human PWS hypothalami; and (iv) current and potential advances in the management of PWS and its complications. This could have benefits for a wide spectrum of endocrine, paediatric and neuropsychiatric diseases." @default.
• W2039183090 created "2016-06-24" @default.
• W2039183090 creator A5082811599 @default.
• W2039183090 date "2004-01-01" @default.
• W2039183090 modified "2023-10-10" @default.
• W2039183090 title "Prader-Willi syndrome: advances in genetics, pathophysiology and treatment" @default.
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• W2039183090 doi "https://doi.org/10.1016/j.tem.2003.11.003" @default.
• W2039183090 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/14693421" @default.
• W2039183090 hasPublicationYear "2004" @default.
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