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[Clinical characteristics and genetic analysis of a child with Galactosemia due to compound heterozygous variants of GALT gene].

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

Xie Zhenhua, Liu Jing, Li Xian, Xiao Mengjun, Zhang Qiang, Zhang Zhenkun, Zhang Yaodong, Li Dongxiao

Abstract excerpt

OBJECTIVE: To explore the clinical features and genetic basis of a child with Galactosemia. METHODS: A child who had presented at the Children's Hospital Affiliated to Zhengzhou University on November 20, 2019 was selected as the study subject. Clinical data of the child was collected. Whole exome sequencing was carried out for the child. Candidate variants were validated by Sanger sequencing. RESULTS: Clinical...

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PMID: 37368387
DOI: 10.3760/cma.j.cn511374-20220518-00334

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