Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsHumansFemaleInfantHeterozygoteCerebellar Diseases
[Pontocerebellar hypoplasia type 2D caused by compound heterozygous variants in the SEPSECS gene: A case report and literature review].
Xiaoyan Xuan, Xiaoke Zhao, Ling Zhang
Published: 202510.3760/cma.j.cn511374-20241015-00536
Abstract
OBJECTIVE: To explore the genetic etiology of Pontocerebellar Hypoplasia Type 2D (PCH2D) due to compound heterozygous variants of the SEPSECS gene and to conduct a literature review. METHODS: A child with PCH2D diagnosed at the Children's Hospital of…
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