Der Typ 9 des Joubert-Syndroms ist eine autosomal rezessive Erkrankung, die durch Mutationen im Gen CC2D2A hervorgerufen wird.
1. |
Lee JE et al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. |
2. |
Gorden NT et al. (2008) CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. |
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Noor A et al. (2008) CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. |
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Bachmann-Gagescu R et al. (2012) Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. |
5. |
OMIM.ORG article Omim 612285 |