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• W2017766172 abstract "Prader-Willi syndrome (PWS) is caused by the absence of paternally expressed, maternally silenced genes at 15q11-q13. We report four individuals with truncating mutations on the paternal allele of MAGEL2, a gene within the PWS domain. The first subject was ascertained by whole-genome sequencing analysis for PWS features. Three additional subjects were identified by reviewing the results of exome sequencing of 1,248 cases in a clinical laboratory. All four subjects had autism spectrum disorder (ASD), intellectual disability and a varying degree of clinical and behavioral features of PWS. These findings suggest that MAGEL2 is a new gene causing complex ASD and that MAGEL2 loss of function can contribute to several aspects of the PWS phenotype." @default.
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• W2017766172 date "2013-09-29" @default.
• W2017766172 modified "2023-10-15" @default.
• W2017766172 title "Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism" @default.
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• W2017766172 doi "https://doi.org/10.1038/ng.2776" @default.
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