SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome

Perez Y, Shorer Z, Liani-Leibson K, Chabosseau P, Kadir R, Volodarsky M, Halperin D, Barber-Zucker S, Shalev H, Schreiber R, Gradstein L, Gurevich E, Zarivach R, Rutter GA, Landau D, Birk OS. SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome. Brain. 2017 Apr 1;140(4):928-939.

PubMed ID: 
28334855