Joubert syndrome type 8 is an autosomal recessive disorder caused by mutations in the ARL13B gene.
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Romano S et al. (2006) Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study. |
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Cantagrel V et al. (2008) Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. |
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Thomas S et al. (2015) Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity. |
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OMIM.ORG article Omim 612291 |