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Possible role for rare TRPM7 variants in patients with hypomagnesemia with secondary hypocalcemia.

Rosa Vargas-PoussouFelix Claverie-MartinCaroline Prot-BertoyeValentina CarottiJenny van der WijstAna Perdomo-RamirezGloria M Fraga-RodriguezMarguerite HureauxCaro BosFemke LattaPascal HouillierJoost G J HoenderopJeroen H F de Baaij
Published in: Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association (2022)
We establish TRPM7 as a prime candidate gene for autosomal dominant hypomagnesemia and secondary hypocalcemia. Screening of unresolved patients with hypomagnesemia and secondary hypocalcemia may further establish TRPM7 pathogenic variants as a novel Mendelian disorder.
Keyphrases
  • copy number
  • genome wide
  • gene expression