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Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect

✍ Scribed by A Schulze; C Hansen; P Bækgaard; S Blichfeldt; MB Petersen; N Tommerup; K Brφndum-Nielsen


Book ID
114811142
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
921 KB
Volume
86
Category
Article
ISSN
0803-5253

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✍ Saitoh, Shinji; Buiting, Karin; Cassidy, Suzanne B.; Conroy, Jeffrey M.; Driscol 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 305 KB 👁 2 views

Recent studies have identified a new class of Prader-Willi syndrome (PWS) and Angelman syndrome (AS) patients who have biparental inheritance, but neither the typical deletion nor uniparental disomy (UPD) or translocation. However, these patients have uniparental DNA methylation throughout 15q11-q13