A new paper reports an individual with the major features of Prader-Willi syndrome (PWS) and a microdeletion in 15q11–q13 removing a cluster of small nucleolar RNAs (snoRNAs). This report provides virtually conclusive evidence that PWS is caused by loss of expression of the C/D box HBII-85 snoRNAs.
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Peters, J. Prader-Willi and snoRNAs. Nat Genet 40, 688–689 (2008). https://doi.org/10.1038/ng0608-688
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DOI: https://doi.org/10.1038/ng0608-688
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