Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsHumansMaleFemaleChildPreschool
[Clinical and genetic analysis of six children with RARS2-related pontocerebellar hypoplasia].
Xiaoli Zhang, Mengyue Wang, Jialin Li, Yichao Ma, Junling Wang, Xiaoli Li, Rui Han, Dan Xu, Shuang Jin, Tianming Jia, Shujin Li, Xianjie Huang, Yueqin Li
Published: 202510.3760/cma.j.cn511374-20250217-00083
Abstract
OBJECTIVE: To analyze the clinical characteristics and genotypic changes of six children with RARS2 gene variants. METHODS: The clinical data of 6 children with RARS2 gene variants diagnosed at the Third Affiliated Hospital of Zhengzhou University fr…
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