Research Article

First Report of CTNS Mutations in a Chinese Family with Infantile Cystinosis

Figure 1

The characteristic clinical features of the family with infantile cystinosis. (a) The family investigated in this study. (b) The Corneal crystals on Slit Lamp Examination (left: the proband; right: the control). (c) The radiological signs of renal rickets in the proband.