Clinical spectrum and molecular diagnosi
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Saitoh, Shinji; Buiting, Karin; Cassidy, Suzanne B.; Conroy, Jeffrey M.; Driscol
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Article
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1997
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John Wiley and Sons
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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