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Article

Schaaf‐Yang syndrome overview: Report of 78 individuals

10 Oct 2018

Abstract excerpt

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 Prader-Willi Syndrome in the initial stages of life but becomes increasingly distinct throughout childhood and...

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PMID: 30302899
DOI: 10.1002/ajmg.a.40650

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