Joubert syndrome 05

Joubert syndrome 5 is an autosomal recessive disorder caused by mutations of the CEP290 gene.

Systematic

Joubert syndrome
	Joubert syndrome 01
	Joubert syndrome 02
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	Joubert syndrome 05
		CEP290
	Joubert syndrome 06
	Joubert syndrome 07
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References:

1.	Sayer JA et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.

2.	Utsch B et al. (2006) Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.

3.	Valente EM et al. (2006) Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

4.	Bachmann-Gagescu R et al. (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

5.	Andersen JS et al. (2003) Proteomic characterization of the human centrosome by protein correlation profiling.

6.	Gleeson JG et al. (2004) Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.

7.	OMIM.ORG article Omim 610188

Update: June 23, 2025

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