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Joubert syndrome 08

Joubert syndrome type 8 is an autosomal recessive disorder caused by mutations in the ARL13B gene.

Systematic

Joubert syndrome
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Joubert syndrome 07
Joubert syndrome 08
ARL13B
Joubert syndrome 09
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Joubert syndrome 17
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References:

1.

Romano S et al. (2006) Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.

external link
2.

Cantagrel V et al. (2008) Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.

external link
3.

Thomas S et al. (2015) Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.

external link
4.

OMIM.ORG article

Omim 612291 external link
Update: Aug. 14, 2020
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