Cone Dystrophy Associated with a Novel Variant in the Terminal Codon of the <i>RPGR</i>-<i>ORF15</i>
Mutations in <i>RPGR<sup>ORF15</sup></i> are associated with rod-cone or cone/cone-rod dystrophy, the latter associated with mutations at the distal end. We describe the phenotype associated with a novel variant in the terminal codon of the <i>RPGR<sup>ORF15</s...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2021-03-01
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| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/12/4/499 |