Molecular diagnosis of the Prader-Willi
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Bärbel Dittrich; Wendy P. Robinson; Hans Knoblauch; Karin Buiting; Kerstin Schmi
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Article
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1992
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Springer
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English
⚖ 247 KB
The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct genetic disorders that are caused by a deletion of chromosome region 15q11-13 or by uniparental disomy for chromosome 15. Whereas PWS results from the absence of a paternal copy of 15q11-13, the absence of a maternal copy of