Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia.

Rosa Vargas-Poussou,Felix Claverie-Martin,Caroline Prot-Bertoye, Valentina Carotti,Jenny van der Wijst,Ana Perdomo-Ramirez, Gloria M Fraga-Rodriguez,Marguerite Hureaux,Caro Bos,Femke Latta,Pascal Houillier,Joost G J Hoenderop,Jeroen H F de Baaij

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association（2023）

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摘要

We establish TRPM7 as a prime candidate gene for autosomal dominant hypomagnesaemia and secondary hypocalcaemia. Screening of unresolved patients with hypocalcaemia and secondary hypocalcaemia may further establish TRPM7 pathogenic variants as a novel Mendelian disorder.

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关键词

TRPM6 , TRPM7 ,HSH,genetics,magnesium deficiency

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