Article
Ophthalmological findings in Joubert syndrome.
Eye (London, England) - 1 Feb 2010
Sturm V, Leiba H, Menke M N, Valente E M, Poretti A, Landau K, Boltshauser E
Abstract excerpt
PURPOSE: Joubert syndrome (JS) is an autosomal-recessive inherited complex malformation of the midbrain-hindbrain. It has been associated with ocular and oculomotor abnormalities. The aim of our study was to extend the ophthalmic knowledge in JS and to add new findings. METHODS: In a retrospective study, 10 consecutive patients, who met the revised diagnostic criteria of JS were included. Mutation analysis was...
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