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...