The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis

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TOPALOĞLU R., Gulhan B., Inozu M., Canpolat N., Yilmaz A., Noyan A., ...More

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, vol.12, no.10, pp.1634-1641, 2017 (SCI-Expanded) identifier identifier


Background and objectives Infantile nephropathic cystinosis is a severe disease that occurs due to mutations in the cystinosis gene, and it is characterized by progressive dysfunction of multiple organs; >100 cystinosis gene mutations have been identified in multiple populations. Our study aimed to identify the clinical characteristics and spectrum of cystinosis gene mutations in Turkish pediatric patients with cystinosis.