mTOR-activating mutations of RRAGD cause a novel syndrome combining kidney tubulopathy and cardiomyopathy

Autor: Jouret, F., Schlingmann, K.P., Shen, K., Dafinger, C., Houillier, P., Liebau, M.C., Vargas-Poussou, R., Knoers, N.V., Konrad, M., De Baaij, J.
Zdroj: In Nephrologie et Thérapeutique September 2021 17(5):280-280
Databáze: ScienceDirect