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The Cone Photoreceptor Mosaic in Aniridia: Within-Family Phenotype-Genotype Discordance
PURPOSE: Investigate in-vivo cone photoreceptor structure in familial aniridia caused by a deletion in the PAX6 gene to elucidate the complexity of between-individual variation in retinal phenotype. DESIGN: Descriptive case-control study PARTICIPANTS: Eight persons with congenital aniridia (5 males;...
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| 出版年: | Ophthalmol Retina |
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| 主要な著者: | , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6557282/ https://ncbi.nlm.nih.gov/pubmed/31174676 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.oret.2019.01.020 |
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