01-P010 Prader–Willi Syndrome and small nucleolar RNAs
✍ Scribed by Carolin Purmann; Giles Yeo; Sadaf Farooqi; Stephen O’Rahilly
- Book ID
- 119327491
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 45 KB
- Volume
- 126
- Category
- Article
- ISSN
- 0925-4773
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Prader-Willi syndrome (PWS) is a genetically determined neurodevelopmental disorder presenting with behavioral symptoms including hyperphagia, disinhibition, and compulsive behavior. The behavioral problems in individuals with PWS are strikingly similar to those in patients with frontal pathologies,
The small nuclear ribonucleoprotein polypeptide N (SNRPN) gene is regarded as one of the candidates for Prader-Willi syndrome (PWS). We describe two sibs with typical PWS presenting deletion of SNRPN detected by fluorescence in situ hybridization (FISH). Neither a cytogenetically detectable 15q12 de