Article
The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis
9 Aug 2017
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.