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[Analysis of CNNM2 gene variant in a child with Hypomagnesemia, seizures, and mental retardation syndrome].

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

Wang Lin, Zhang Hongwei, Luo Junxia, Qi Fang, Liu Yong, Zhang Kaihui, Gao Zaifen

Abstract excerpt

OBJECTIVE: To explore the genetic etiology of a child with Hypomagnesemia, epilepsy and mental retardation syndrome (HSMR). METHODS: A child who was admitted to the Children's Hospital of Shandong University on July 9, 2021 due to repeated convulsions for 2 months was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his pedigree members were...

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PMID: 37532502
DOI: 10.3760/cma.j.cn511374-20220915-00622

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