Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis

BACKGROUND: Ocular cystinosis is a rare autosomal recessive disorder characterized by intralysosomal cystine accumulation in renal, ophthalmic (cornea, conjunctiva), and other organ abnormalities. Patients with ocular cystinosis are mostly asymptomatic and typically experience mild photophobia due t...

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Detalles Bibliográficos
Autores principales: Chkioua, Latifa, Amri, Yessine, Saheli, Chaima, Mili, Wassila, Mabrouk, Sameh, Chabchoub, Imen, Boudabous, Hela, Azzouz, Wissem Ben, Turkia, Hadhami Ben, Ferchichi, Salima, Tebib, Neji, Massoud, Taieb, Ghorbel, Mohamed, Laradi, Sandrine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9074260/
https://www.ncbi.nlm.nih.gov/pubmed/35524314
http://dx.doi.org/10.1186/s13000-022-01221-8

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