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[Analysis of clinical characteristics and ATP7A gene variants in a Chinese pedigree affected with Menkes disease].

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

Zhang Jia, Gan Jing, Yang Zuozhen, Wang Jianjun

Abstract excerpt

OBJECTIVE: To explore the clinical characteristics and variants of ATP7A gene in a child with Menkes disease. METHODS: A child with Menkes disease diagnosed at the West China Second Hospital of Sichuan University and its family members in March 2022 was selected as the study subjects. Clinical manifestations and results of laboratory tests and genetic testing were summarized. RESULTS: The main manifestations of...

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PMID: 37994131
DOI: 10.3760/cma.j.cn511374-20220629-00442

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