Novel CNNM2 Mutation Responsible for Autosomal-Dominant Hypomagnesemia With Seizure

CNNM2 is primarily expressed in the brain and distal convoluted tubule (DCT) of the kidney. Mutations in CNNM2 have been reported to cause hypomagnesemia, seizure, and intellectual disability (HSMR) syndrome. However, the clinical and functional effect of CNNM2 mutations remains incompletely underst...

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Detalles Bibliográficos
Autores principales: Tseng, Min-Hua, Yang, Sung-Sen, Sung, Chih-Chien, Ding, Jhao-Jhuang, Hsu, Yu-Juei, Chu, Shih-Ming, Lin, Shih-Hua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9277586/
https://www.ncbi.nlm.nih.gov/pubmed/35846113
http://dx.doi.org/10.3389/fgene.2022.875013

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9277586/
https://www.ncbi.nlm.nih.gov/pubmed/35846113
http://dx.doi.org/10.3389/fgene.2022.875013

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