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Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome

✍ Scribed by J. C. Czeschik, C. Voigt, Y. Alanay, B. Albrecht, S. Avci, D. FitzPatrick…

Book ID
120909219
Publisher
Springer
Year
2013
Tongue
English
Weight
629 KB
Volume
132
Category
Article
ISSN
0340-6717

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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