Rare hypomagnesemia, seizures, and mental retardation in a 4‐month‐old patient caused by novel CNNM2 mutation Tyr189Cys: Genetic analysis and review

Rare hypomagnesemia, seizures, and mental retardation in a 4‐month‐old patient caused by novel CNNM2 mutation Tyr189Cys: Genetic analysis and review

Abstract 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 sequencin...

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Bibliographic Details
Main Authors: Xiaoyan Xu, Shu Hou, Weiwei Sun, Jing Zhu, Jinjing Yuan, Zhenzhen Cui, De Wu, Jiulai Tang
Format: Article
Language:English
Published: Wiley 2022-04-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CHD
CNNM2
HSMR
hypomagnesemia
mental retardation
seizures
Online Access:https://doi.org/10.1002/mgg3.1898

Internet

https://doi.org/10.1002/mgg3.1898

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