Topaloglu R, et al. – The clinical characteristics and spectrum of cystinosis gene mutations were explored in Turkish pediatric patients with cystinosis. As per the findings, c.681G>A (p.Glu227Glu), c.1015G>A (p.Gly339Arg), and c.18_21 del (p.Thr7Phefs*7) were the most common cystinosis gene mutations identified in Turkey. There appeared a possibility of better kidney outcome in patients with less severe cystinosis gene mutations.