Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey

We have conducted this study for the purposes of demonstrating the spectrum of mutations and of identifying their effects on the phenotype, with a particular focus on the clinical course, prognosis and response to treatment. A total of 25 patients from 20 families, who have been treated and f...

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Main Authors: Neslihan Önenli-Mungan, Bilgin Yüksel, Ali Kemal Topaloğlu, Berna Şeker-Yılmaz, Gülay Ceylaner, Aytül Noyan, Sevgi Yavuz, Nurcan Cengiz, Aysun Karabay-Bayazıt, Deniz Kör, Ali Anarat
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2016-08-01
Series:The Turkish Journal of Pediatrics
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Online Access:https://turkjpediatr.org/article/view/1126
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