PRPS1-associated retinopathy: a diagnostic odyssey

IF 1 4区 医学 Q4 GENETICS & HEREDITY Ophthalmic Genetics Pub Date : 2024-04-15 DOI:10.1080/13816810.2024.2321871
Tariq A. Alzahem, Abdulwahab AlTheeb, Rola Ba-Abbad
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引用次数: 0

Abstract

This study describes how the diagnosis of Usher syndrome was revised to PRPS1-associated retinopathy and Charcot—Marie—Tooth disease type 5.A 38-year-old female with bilaterally subnormal vision an...
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PRPS1 相关视网膜病变:诊断奥德赛
本研究描述了如何将乌谢尔综合征的诊断修改为 PRPS1 相关性视网膜病变和夏科-玛丽-牙病 5 型。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
Ophthalmic Genetics
Ophthalmic Genetics 医学-眼科学
CiteScore
2.40
自引率
8.30%
发文量
126
审稿时长
>12 weeks
期刊介绍: Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
期刊最新文献
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