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[Pontocerebellar hypoplasia type 2B due to compound heterozygous variants of TSEN2 gene: A case report and literature review].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jan 2026

Lin Xueqin, He Hailan, Zhu Saying, Quan Yulin, Zhou Shichen, Zhang Zhanwei, Peng Jing

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic features of a child with Pontocerebellar hypoplasia type 2B (PCH2B) due to compound heterozygous variants of the TSEN2 gene. METHODS: A PCH2B patient presented at Department of Pediatric Neurology, Xiangya Hospital of Central South University in June 2023 was selected as the study subject. Clinical data of the patient were retrospectively analyzed. The patient and...

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PMID: 41621844
DOI: 10.3760/cma.j.cn511374-20250805-00478

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TSEN2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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