Joubert syndrome 5 is an autosomal recessive disorder caused by mutations of the CEP290 gene.
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Sayer JA et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. |
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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) Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. |
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Bachmann-Gagescu R et al. (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. |
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Andersen JS et al. (2003) Proteomic characterization of the human centrosome by protein correlation profiling. |
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Gleeson JG et al. (2004) Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. |
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OMIM.ORG article Omim 610188 |