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[Analysis of CYP2U1 gene variants in a child with Hereditary spastic paraplegia type 56].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 May 2023

Zhang Guangyu, Li Sansong, Yang Lei, Wang Mingmei, Chen Gongxun, Zhu Dengna

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic characteristics of a child with Hereditary spastic paraplegia (HSP). METHODS: A child with HSP who was admitted to the Third Affiliated Hospital of Zhengzhou University on August 10, 2020 due to discovery of tiptoeing for 2 years was selected as the study subject, and relevant clinical data was collected. Peripheral blood samples of the child and her...

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PMID: 37102293
DOI: 10.3760/cma.j.cn511374-20201118-00812

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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