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- W3170474295 abstract "Purpose: To present the case of a family with a novel PRPH2/RDS mutation. Methods: A case report of a 44-year-old woman and her immediate family, including the father and a sister who shared her PRPH2/RDS mutation. Results: A 44-year-old woman presented with examination findings consistent with a butterfly-type pattern dystrophy. A sister had a similar butterfly-type dystrophy, whereas their father had a severe cone–rod dystrophy. Genetic testing revealed the same novel PRPH2/RDS mutation in all three affected individuals, suggesting that this single mutation can produce at least two disparate retinal disease phenotypes. Conclusion: This case describes a novel p.Y225X nonsense mutation in the PRPH2/RDS gene and demonstrates that it is both pathologic and capable of significant phenotypic variability." @default.
- W3170474295 created "2021-06-22" @default.
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- W3170474295 date "2023-05-01" @default.
- W3170474295 modified "2023-10-17" @default.
- W3170474295 title "NOVEL PRPH2/RDS MUTATION IDENTIFIED IN A FAMILY WITH VARYING CLINICAL MANIFESTATIONS: A CASE REPORT" @default.
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- W3170474295 doi "https://doi.org/10.1097/icb.0000000000001175" @default.
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