Klinik und Genetik des Joubert-Syndroms

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Dixon-Salazar T, Silhavy JL, Marsh SE et al (2004) Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. Am J Hum Genet 75:979–987

Doherty D (2009) Joubert syndrome: insights into brain development, cilium biology, and complex disease. Semin Pediatr Neurol 16:143–154

Ferland RJ, Eyaid W, Collura RV et al (2004) Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. Nat Genet 36:1008–1013

Joubert M, Eisenring JJ, Robb JP, Andermann F (1969) Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology 19:813–825

Maria BL, Hoang KB, Tusa RJ et al (1997) Joubert syndrome revisited: key ocular motor signs with magnetic resonance imaging correlation. J Child Neurol 12:423–430

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