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A novel TRPM6 variant (c.3179T>A) causing familial hypomagnesemia with secondary hypocalcemia
SUMMARY: 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)...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Endocrinol Diabetes Metab Case Rep |
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| Κύριοι συγγραφείς: | , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Bioscientifica Ltd
2020
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7219130/ https://ncbi.nlm.nih.gov/pubmed/32369769 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EDM-20-0005 |
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