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X-linked juvenile retinoschisis: phenotypic and genetic characterization
Juvenile X-linked retinoschisis (XLRS, MIM#312700) belongs to a group of the vitreoretinal dystrophies. We aimed to describe the phenotype-genotype correlation of three XLRS cases in juveniles with different novel mutations from the Lithuanian population. The patients demonstrated macular retinoschi...
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| 發表在: | Int J Ophthalmol |
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| Main Authors: | , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
International Journal of Ophthalmology Press
2018
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6232335/ https://ncbi.nlm.nih.gov/pubmed/30450322 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2018.11.22 |
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