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A new case of interstitial 6q16.2 deletion in a patient with Prader–Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity

✍ Scribed by Monica C. Varela; Alex Y. Simões-Sato; Chong A. Kim; Débora R. Bertola; Claudia I.E. De Castro; Celia P. Koiffmann


Book ID
116432971
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
244 KB
Volume
49
Category
Article
ISSN
1769-7212

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Myelomeningocele and Waardenburg syndrom
✍ Nye, Jeffrey S.; Balkin, Nancy; Lucas, Heather; Knepper, Paul A.; McLone, David 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 47 KB 👁 1 views

From a spina bifida clinic we have identified two patients with a syndrome of myelomeningocele and Waardenburg syndrome type 3 (WS3). The patients each possess a single, de novo, interstitial deletion of chromosome 2 (2q35-36.2), including the PAX3 gene. Deletion of PAX3 was confirmed by fluorescenc