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[A case of neonatal Mitochondrial DNA depletion syndrome type 13 caused by FBXL4 gene mutation].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Dec 2024

Zhu Yuanyuan, Wang Chenhong, Chen Junjin, Wang Xiaohong, Ma Xiaolu

Abstract excerpt

OBJECTIVE: To explore the clinical phenotypes and genetic variant in a neonatal case of Mitochondrial DNA depletion syndrome type 13 (MTDPS13). METHODS: Clinical data and results of genetic testing of a neonate admitted to the Children's Hospital of Zhejiang University School of Medicine in January 2023 was retrospectively analyzed. The study was approved by the Medical Ethics Committee of the Children's Hospital...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39653352
DOI: 10.3760/cma.j.cn511374-20240630-00360

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