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.