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

• Главные авторы: Jiayu Song (Автор), Juan Lei (Автор), Jianxia Zhang (Автор), Aiqing Zhang (Автор), Weihua Gan (Автор), Bixia Zheng (Автор), Chunli Wang (Автор), Jing Gong (Автор)
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• Опубликовано: Frontiers Media S.A., 2022-05-01T00:00:00Z.
• Предметы: article
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ObjectivePrimary 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 investigate...