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Letter
Nature Genetics 36, 1008–1013 (1 September 2004) | doi:10.1038/ng1419
Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
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Abstract
Joubert syndrome is a congenital brain malformation of the cerebellar vermis and brainstem with abnormalities of axonal decussation (crossing in the brain) affecting the corticospinal tract and superior cerebellar peduncles. Individuals with Joubert syndrome have motor and behavioral abnormalities, including an inability to walk due to severe clumsiness and 'mirror' movements, and cognitive and behavioral disturbances.
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