PedAM
Pediatric Disease Annotations & Medicines
| Disease | ciliopathy |
| Phenotype | C0035304|retinal degeneration |
| Sentences | 1 |
| PubMedID- 23351659 | A large number of ciliopathy mouse models with retinal degeneration have been reported and are summarized in table 2. here, we focus on two ciliopathy genes involved in retinal dystrophy: cep290, mutations in which cause up to 15 to 25% of lca [127]; and rpgr, the most common cause of x-linked rp and one of the most frequent causes of all forms of rp [128,129]. |
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