CTNS molecular genetics profile in a Persian nephropathic cystinosis population
Purpose: In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia. Methods: Cystinosis was primarily diagnosed by a pediatric nephrologist and then referred...
|Main Authors:||, , , , , , ,|