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Author

Sheng Zhong

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Open access Sep 2026

Expanding the clinical and molecular spectrum of Schaaf-Yang syndrome in China: evidence for a severe phenotypic subgroup associated with MAGEL2 c.1996-Region variants

Schaaf-Yang syndrome (SYS) is a rare imprinting-related neurodevelopmental disorder caused by pathogenic variants in the MAGEL2 gene. Although the clinical spectrum of SYS has been increasingly recognized, data from Chinese patients remain limited. We conducted a retrospective questionnaire-based case...

Xue-Fei Chen, Shu-Jiong Mao, Sheng Zhong et al. · 0 citations

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