Schaaf‐Yang syndrome overview: Report of 78 individuals

Schaaf‐Yang Syndrome (SYS) is a genetic disorder caused by truncating pathogenic variants in the paternal allele of the maternally imprinted, paternally expressed gene MAGEL2, located in the Prader‐Willi critical region 15q11‐15q13. SYS is a neurodevelopmental disorder that has clinical overlap with...

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書目詳細資料
發表在:Am J Med Genet A
Main Authors: McCarthy, John, Lupo, Philip J., Kovar, Erin, Rech, Megan, Bostwick, Bret, Scott, Daryl, Kraft, Katerina, Roscioli, Tony, Charrow, Joel, Schrier Vergano, Samantha A., Lose, Edward, Smiegel, Robert, Lacassie, Yves, Schaaf, Christian P.
格式: Artigo
語言:Inglês
出版: John Wiley & Sons, Inc. 2018
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Research Articles
在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC6585857/
https://ncbi.nlm.nih.gov/pubmed/30302899
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.40650
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