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[Analysis of clinical phenotype and genetic variants in a child with mitochondrial F-S disease due to variants of FDXR gene].

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

Hu Wenjing, Ling Xiuxin, Fang Hongjun, Tang Jingwen, Kang Qingyun, Yang Haiyan, Wu Liwen

Abstract excerpt

OBJECTIVE: To analyze the clinical phenotype and genetic variants of a child suspected for mitochondrial F-S disease. METHODS: A child with mitochondrial F-S disease who visited Department of Neurology, Hunan Provincial children's Hospital on November 5, 2020 was selected as research subject of this study. Clinical data of the child was collected. The child was subjected to whole exome sequencing (WES)....

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PMID: 36972934
DOI: 10.3760/cma.j.cn511374-20220520-00341

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