Ocular and systemic manifestations of Joubert syndrome: A case report
Joubert syndrome (JS) is a group of rare disorders that stem from defects in sensory organelle, the primary cilia. Affected patients often present with disorders affecting multiple systems, including the brain, eye, and kidneys. Oculomotor apraxia is the most frequent ocular manifestation (80%), fol...
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| Главные авторы: | , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Wolters Kluwer Medknow Publications
2024-11-01
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| Серии: | Indian Journal of Ophthalmology. Case Reports |
| Предметы: | |
| Online-ссылка: | https://journals.lww.com/10.4103/IJO.IJO_1239_23 |
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