Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant.

Objective: To report a rare case of cystinosis with a novel CTNS pathogenic variant in the Chinese population.

Methods: Retrospective analysis of the clinical manifestations, laboratory results, and gene detection data of a child with cystinosis.

Results: A Chinese Zang ethnic girl could not stand or walk until 3 years old, with additional symptoms including a loss of appetite.