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A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy
PURPOSE: To describe the clinical and electrophysiological features of adult-onset macular dystrophy, due to novel combinations of CDHR1 alleles, and compare the associated phenotypes with previous reports. METHODS: The clinical records of patients with macular dystrophy and biallelic variants in CD...
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| Publicat a: | Eye (Lond) |
|---|---|
| Autors principals: | , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Nature Publishing Group UK
2020
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8182786/ https://ncbi.nlm.nih.gov/pubmed/32681094 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41433-020-1045-3 |
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