Joubert syndrome 09
Joubert syndrome type 9 is an autosomal recessive disorder caused by mutations in the CC2D2A gene.
Lee JE et al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.[^]
Gorden NT et al. (2008) CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.[^]
Noor A et al. (2008) CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa.[^]
Bachmann-Gagescu R et al. (2012) Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.[^]
OMIM.ORG articleOmim 612285 [^]