Joubert syndrome 05
Joubert syndrome 5 is an autosomal recessive disorder caused by mutations of the CEP290 gene.
Sayer JA et. al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.[^]
Utsch B et. al. (2006) Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.[^]
Valente EM et al. (2006) Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.[^]
Bachmann-Gagescu R et. al. (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.[^]
Andersen JS et. al. (2003) Proteomic characterization of the human centrosome by protein correlation profiling.[^]
Gleeson JG et. al. (2004) Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.[^]