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[Clinical and molecular genetic analysis of a case of MEGDEL syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Mar 2021

Zhang Xin, Li Dan, Lyu Nan, Yang Jie, Yang Chengxia, Zhang Xuyan, Ma Wenjun, Li Dongxiao

Abstract excerpt

OBJECTIVE: To explore the clinical and genetic characteristics of a child with MEGDEL syndrome. METHODS: Clinical data of the child was reviewed. Peripheral blood samples of the child and his parents were collected. Mitochondrial genome and the whole exome of the child were analyzed by next-generation sequencing. Candidate variants and its origin were verified by Sanger sequencing and fluorescence quantitative...

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Identifiers

PMID: 33751540
DOI: 10.3760/cma.j.cn511374-20200117-00036

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