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Joubert syndrome 05

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

Systematic

Joubert syndrome
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Joubert syndrome 05
CEP290
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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.

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

OMIM.ORG article

Omim 610188 external link
Update: Aug. 14, 2020
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