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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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Principais autores: Neha S Shetty, Shilpa Sonarkhan, Rahul Deshpande
格式: Artigo
語言:Inglês
出版: Wolters Kluwer Medknow Publications 2024-11-01
叢編:Indian Journal of Ophthalmology. Case Reports
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在線閱讀:https://journals.lww.com/10.4103/IJO.IJO_1239_23
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