PedAM
Pediatric Disease Annotations & Medicines
| Disease | retinal degeneration |
| Phenotype | C0008525|choroideremia |
| Sentences | 1 |
| PubMedID- 22649356 | For instance, loss-of-function mutations in rep-1 that lead to choroideremia, an x-linked form of retinal degeneration characterized by an excess of unprenylated rab27a in retinal pigment epithelial cells (seabra, 1996). |
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