Fundus findings in a case of Joubert syndrome
- PMID: 28513504
- PMCID: PMC5452592
- DOI: 10.4103/ijo.IJO_441_16
Fundus findings in a case of Joubert syndrome
Conflict of interest statement
There are no conflicts of interest.
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References
-
- Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology. 1969;19:813–25. - PubMed
-
- Maria BL, Boltshauser E, Palmer SC, Tran TX. Clinical features and revised diagnostic criteria in Joubert syndrome. J Child Neurol. 1999;14:583–90. - PubMed
-
- Parisi MA, Doherty D, Chance PF, Glass IA. Joubert syndrome (and related disorders) (OMIM 213300) Eur J Hum Genet. 2007;15:511–21. - PubMed
-
- Khan AO, Oystreck DT, Seidahmed MZ, AlDrees A, Elmalik SA, Alorainy IA, et al. Ophthalmic features of Joubert syndrome. Ophthalmology. 2008;115:2286–9. - PubMed
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