The spectrum of CHM gene mutations in choroideremia and their relationship to clinical phenotype
Purpose: We report the underlying genotype and explore possible genotypic-phenotypic correlations in a large cohort of choroideremia patients. Methods: We studied prospectively a cohort of 79 patients diagnosed within a tertiary referral service for patients with retinal dystrophies. Phenotypic eval...
| Main Authors: | , , , , , , |
|---|---|
| Format: | Journal article |
| Language: | English |
| Published: |
Association for Research in Vision and Ophthalmology
2016
|