Lebersche kongenitale Amaurose 10 ist eine autosomal rezessive Erkrankung, die auf Mutationen des CEP290-Gens beruht.
1. |
Chang B et al. (2006) In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. |
2. |
den Hollander AI et al. (2006) Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. |
4. |
McEwen DP et al. (2007) Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons. |
5. |
Papon JF et al. (2010) Abnormal respiratory cilia in non-syndromic Leber congenital amaurosis with CEP290 mutations. |
6. |
OMIM.ORG article Omim 611755 |