同卵双胞胎中伴有肾病模拟中间葡萄膜炎的非典型COQ2相关视网膜病变

Gavric AU, Volk M, Kojc N, Osredkar D, Meglič A, Sustar Habjan M, Kiraly P, Jaki Mekjavic P

摘要

该论文报告了一对同卵双胞胎中罕见的COQ2基因突变导致的视网膜病变和肾病病例。临床表现类似中间葡萄膜炎，提示需对类似症状进行基因检测以明确诊断。

COQ2retinopathynephropathyidentical twinsintermediate uveitis

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