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The genetic basis for Prader—Willi syndrome: the importance of imprinted genes

✍ Scribed by K. Brøndum-Nielsen


Book ID
114811507
Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
296 KB
Volume
86
Category
Article
ISSN
0803-5253

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A genetic model for the Prader-Willi syn
✍ Ingo Kennerknecht 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 944 KB

Sporadic cases of Prader-Willi syndrome (PWS) are associated with the physical absence of the paternal Prader-Willi chromosome region (PWCR) by deletion 15q11-13, by segmental maternal heterodisomy or by chromosome rearrangements resulting in homozygosity for maternal PWCR. In isolated/familial case