CTNS molecular genetics profile in a Persian nephropathic cystinosis population Farideh Ghazi, Rozita Hosseini, Mansoureh Akouchekian, Shahram Teimourian, Zohreh Ataei Kachoei, Hassan Otukesh, William A. Gahl, Babak Behnam

Phenotypic variability in cystinosis: Lessons from an atypical case Diego Toso, Monica Furlano, Adria Tinoco, Tania Sensat Saltor, Elisabet Ars, Roser Torra

Familial juvenile hyperuricemic nephropathy: Revisiting the SLC8A1 gene, in a family with a novel terminal gross deletion in the UMOD gene Francisco Gonçalves, Pedro Lisboa-Gonçalves, Rita Quental, Susana Fernandes, Sofia Quental, Laurence Michel-Calemard, Claire Goursaud, Sofia Marques, Joana Santos, Isabel Tavares, João Paulo Oliveira