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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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Detaylı Bibliyografya
Asıl Yazarlar: Neha S Shetty, Shilpa Sonarkhan, Rahul Deshpande
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Wolters Kluwer Medknow Publications 2024-11-01
Seri Bilgileri:Indian Journal of Ophthalmology. Case Reports
Konular:
Online Erişim:https://journals.lww.com/10.4103/IJO.IJO_1239_23
Etiketler: Etiketle
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