Joubert syndrome: A haplotype segregation strategy and exclusion of the zinc finger protein of cerebellum 1 (ZIC1) gene

Joubert syndrome (JS) is a rare autosomal recessive malformation syndrome, involving dysgenesis of the cerebellar vermis with accompanying brainstem malformations (comprising the molar tooth sign). JS is characterized by hypotonia, developmental delay, intermittent hyperpnea and apnea, and abnormal...

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