Das Joubert-Syndrom 3 ist eine autosomal rezessive Erkrankung, die durch Mutationen im AHI1-Gen hervorgerufen wird.
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Najmabadi H et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders. |
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Ferland RJ et al. (2004) Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome. |
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Dixon-Salazar T et al. (2004) Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria. |
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Parisi MA et al. (2006) AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. |
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Utsch B et al. (2006) Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. |
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Valente EM et al. (2006) AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. |
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Elsayed SM et al. (2015) Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene. |
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Boltshauser E et al. (1977) Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. |
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Valente EM et al. (2005) Distinguishing the four genetic causes of Jouberts syndrome-related disorders. |
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Lagier-Tourenne C et al. (2004) Homozygosity mapping of a third Joubert syndrome locus to 6q23. |
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OMIM.ORG article Omim 608629 |