Case Report: A Novel Non-Canonical Splice Site Variant (c.1638+7T>C) in TRPM6 Cause Primary Homagnesemia With Secondary Hocalcemia

OBJECTIVE: Primary hypomagnesemia with secondary hypocalcemia (HSH) is caused by loss-of-function mutations in the TRPM6 gene encoding the epithelial magnesium channel. It is characterized by hypomagnesemia and secondary hypocalcemia associated with neurological symptoms. Here, we aimed to investiga...

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Detalles Bibliográficos
Autores principales: Song, Jiayu, Lei, Juan, Zhang, Jianxia, Zhang, Aiqing, Gan, Weihua, Zheng, Bixia, Wang, Chunli, Gong, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9174589/
https://www.ncbi.nlm.nih.gov/pubmed/35692977
http://dx.doi.org/10.3389/fped.2022.834241

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9174589/
https://www.ncbi.nlm.nih.gov/pubmed/35692977
http://dx.doi.org/10.3389/fped.2022.834241

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