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Author

Chao-Chun Zou

2 papers indexed here

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Review Open access Oct 2026

Case Report: Concurrent maternal uniparental disomy-type Prader-Willi syndrome and X-linked G6PD deficiency—an area of focus on multi-gene screening for imprinting disorders

Prader-Willi syndrome (PWS) is a rare imprinting disorder caused by functional impairment of imprinted genes within the paternal 15q11.2-q13 region. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is an X-linked hereditary disorder. Cases describing the coexistence of maternal uniparental disomy (UPD)-type PWS...

Qiong Zhou, Jia-Ming Yuan, Chao-Chun Zou · 0 citations
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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