Truncating mutations of MAGEL2cause Prader-Willi phenotypes and autism

Truncating mutations of MAGEL2cause Prader-Willi phenotypes and autism

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 anal...

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Main Authors: Schaaf, Christian P., Gonzalez-Garay, Manuel L., Xia, Fan, Potocki, Lorraine, Gripp, Karen W., Zhang, Baili, Peters, Brock A., McElwain, Mark A., Drmanac, Radoje, Beaudet, Arthur L., Caskey, C. Thomas, Yang, Yaping
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Language:English
Published: 2013
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Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC3819162/
https://pubmed.ncbi.nlm.nih.gov/24076603
http://dx.doi.org/10.1038/ng.2776
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https://pmc.ncbi.nlm.nih.gov/articles/PMC3819162/
https://pubmed.ncbi.nlm.nih.gov/24076603
http://dx.doi.org/10.1038/ng.2776

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