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Pseudodominance in two families with KCNV2 related retinopathy
PURPOSE: To describe the phenotypic and genotypic characteristics of two families with cone dystrophy with supernormal rod responses (CDSRR) presenting with a pseudodominant inheritance of disease. OBSERVATIONS: Three affected members from each family were ascertained. Family 1 of Egyptian ancestry...
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| Publicado no: | Am J Ophthalmol Case Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Elsevier
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7057165/ https://ncbi.nlm.nih.gov/pubmed/32154435 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajoc.2020.100625 |
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