Autosomal recessive hyponatremia due to isolated salt wasting in sweat associated with a mutation in the active site of carbonic anhydrase 12 - Muhammad, E; Leventhal, N; Parvari, G; Hanukoglu, A; Hanukoglu, I; Chalifa-Caspi, V; Feinstein, Y; Weinbrand, J; Jacoby, H; Manor, E; Nagar, T; Beck, J C; Sheffield, V C; Hershkovitz, E; Parvari, R (Hum Genet, 2011)