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Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis
Abstract 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 photophob...
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| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
BMC
2022-05-01
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| Serier: | Diagnostic Pathology |
| Fag: | |
| Online adgang: | https://doi.org/10.1186/s13000-022-01221-8 |
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