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...

Full description

Bibliographic Details
Main Authors: Farideh Ghazi, Rozita Hosseini, Mansoureh Akouchekian, Shahram Teimourian, Zohreh Ataei Kachoei, Hassan Otukesh, William A. Gahl, Babak Behnam
Format: Article
Published: Elsevier 2017-05-01
Online Access:http://www.sciencedirect.com/science/article/pii/S0211699517300061