Joubert syndrome 08
Joubert syndrome type 8 is an autosomal recessive disorder caused by mutations in the ARL13B gene.
Romano S et al. (2006) Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.[^]
Cantagrel V et al. (2008) Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.[^]
Thomas S et al. (2015) Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity.[^]
OMIM.ORG articleOmim 612291 [^]