Joubert-Syndrom 05
Das Joubert-Syndrom 5 ist eine autosomal rezessive Erkrankung, die durch Mutationen im CEP290-Gen hervorgerufen wird.
Gliederung
Referenzen:
| 1. |
Sayer JA et al. (2006) The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. [^] |
| 2. |
Utsch B et al. (2006) Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome. [^] |
| 3. |
Valente EM et al. (2006) Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. [^] |
| 4. |
Bachmann-Gagescu R et al. (2015) Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. [^] |
| 5. |
Andersen JS et al. (2003) Proteomic characterization of the human centrosome by protein correlation profiling. [^] |
| 6. |
Gleeson JG et al. (2004) Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. [^] |
| 7. |
OMIM.ORG article Omim 610188 [^] |
