PedAM
Pediatric Disease Annotations & Medicines
| Disease | microphthalmia |
| Phenotype | C0410528|skeletal dysplasia |
| Sentences | 1 |
| PubMedID- 25719200 | This manuscript reports three heterozygous mutations (p.(arg51cys), p.(arg51his), and p.(glu49lys) affecting the same region as the mutation reported here and resulting in similar phenotypes (anophthalmia or colobomatous microphthalmia with rhizomelic skeletal dysplasia in two families); one of the reported families includes the uk10k_col5001067 and uk10k_col5001068 cases with the p.(arg51his) mutation that we presented in results from the publically available data. |
Page: 1