PedAM
Pediatric Disease Annotations & Medicines
| Disease | cone-rod dystrophy |
| Phenotype | C0002452|amelogenesis imperfecta |
| Sentences | 3 |
| PubMedID- 21728811 | cone-rod dystrophy associated with amelogenesis imperfecta in a child with neurofibromatosis type 1. |
| PubMedID- 24339795 | Furthermore, cnnm4 mutations cause jalili syndrome, characterized by recessive amelogenesis imperfecta with cone-rod dystrophy. |
| PubMedID- 20700443 | Rare mutations in cnnm4 have recently been reported as a cause of autosomal-recessive cone-rod dystrophy with amelogenesis imperfecta [37], [38]. |
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