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

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 u...

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Detalles Bibliográficos
Autores principales: Xu, Xiaoyan, Hou, Shu, Sun, Weiwei, Zhu, Jing, Yuan, Jinjing, Cui, Zhenzhen, Wu, De, Tang, Jiulai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000947/
https://www.ncbi.nlm.nih.gov/pubmed/35170241
http://dx.doi.org/10.1002/mgg3.1898

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9000947/
https://www.ncbi.nlm.nih.gov/pubmed/35170241
http://dx.doi.org/10.1002/mgg3.1898

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