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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)...

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Foilsithe in:Endocrinol Diabetes Metab Case Rep
Main Authors: Lomelino-Pinheiro, Sara, Margarida, Bastos, Lages, Adriana de Sousa
Formáid: Artigo
Teanga:Inglês
Foilsithe: Bioscientifica Ltd 2020
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Rochtain Ar Líne: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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