Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
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Joubert Syndrome: Ophthalmological Findings in Correlation with Genotype and Hepatorenal Disease in 99 Patients Prospectively Evaluated at a Single Center.
OBJECTIVEJoubert syndrome (JS) is caused by mutations in> 34 genes that encode proteins involved with primary (nonmotile) cilia and ciliary basal bodies. This study describes the eye phenotype JS
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