The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis
- YÜKSEL, Selcuk
- GÖKÇE, Ibrahim
- GURGOZE, Metin Kaya
- AKINCI, Nurver
- BASKIN, Esra
- SERDAROĞLU, Erkin
- KILIC, Beltinge Demircioglu
- TOPALOĞLU, REZAN
- Canpolat, Nur
- Yilmaz, Alev
- ÖZALTIN, Fatih
- HAYRAN, Mutlu
- KORKMAZ, Emine
- HACIHAMDIOGLU, Duygu Ovunc
- INOZU, Mihriban
- GÜLHAN, Bora
- NOYAN, Aytul
- DURSUN, Ismail
Publication date
January 2017
DOI Publisher
American Society of Nephrology (ASN) Journal
Clinical Journal of the American Society of NephrologyAbstract
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
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