A novel TRPM6 variant (c.3179T>A) causing familial hypomagnesemia with secondary hypocalcemia
Familial hypomagnesemia with secondary hypocalcemia (FHSH) is a rare autosomal recessive disorder (OMIM# 602014) characterized by profound hypomagnesemia associated with hypocalcemia. It is caused by mutations in the gene encoding transient receptor potential cation channel member 6 (TRPM6). It usua...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2020-05-01
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| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Online Access: | https://edm.bioscientifica.com/view/journals/edm/2020/1/EDM20-0005.xml |