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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Udgivet i:Endocrinol Diabetes Metab Case Rep
Main Authors: Lomelino-Pinheiro, Sara, Margarida, Bastos, Lages, Adriana de Sousa
Format: Artigo
Sprog:Inglês
Udgivet: Bioscientifica Ltd 2020
Fag:
New Disease or Syndrome: Presentations/Diagnosis/Management
Online adgang: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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