Frontiers in cell and developmental biology
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
Von Chen XF, Mao SJ, Zhong S und 4 weiteren.
Inhalt auf Englisch
Abstract
Introduction
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.
Methods
We conducted a retrospective questionnaire-based case series to delineate the clinical and molecular characteristics of Chinese individuals with MAGEL2-related disorders among evaluable individuals.