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Ophthalmological findings in Joubert syndrome

✍ Scribed by Sturm, V; Leiba, H; Menke, M N; Valente, E M; Poretti, A; Landau, K; Boltshauser, E

Book ID: 109852214
Publisher: Nature Publishing Group
Year: 2009
Tongue: English
Weight: 114 KB
Volume: 24
Category: Article
ISSN: 0950-222X
DOI: 10.1038/eye.2009.116

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## Abstract Joubert syndrome (JS) is characterized by hypotonia, ataxia, developmental delay, and a typical neuroimaging finding, the so‐called “molar tooth sign” (MTS). The association of MTS and polymicrogyria (PMG) has been reported as a distinct JS‐related disorder (JSRD). So far, five patients