Article
Rare hypomagnesemia, seizures, and mental retardation in a 4-month-old patient caused by novel CNNM2 mutation Tyr189Cys: Genetic analysis and review.
Molecular genetics & genomic medicine - 1 Apr 2022
Xu Xiaoyan, Hou Shu, Sun Weiwei, Zhu Jing, Yuan Jinjing, Cui Zhenzhen, Wu De, Tang Jiulai
Abstract excerpt
BACKGROUND: Hypomagnesemia, seizures, and mental retardation (HSMR) syndrome is a rare genetic disease. Presently, only 24 cases have been reported and the clinical features of the disease are yet to be fully described, thereby making diagnosis challenging. METHODS: Trio-whole-exome sequencing was used for the patient and her parents, and the structure of the variant protein was analyzed by molecular dynamics....
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