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Microphthalmia and anterior segment dysgenesis due to a double gene variant in GJA8 and CRYGC
European Journal of Ophthalmology ( IF 1.7 ) Pub Date : 2023-03-14 , DOI: 10.1177/11206721231163611
Lin Zhou 1 , Ganghua Wang 1 , Bin Hu 2 , Hui Jiang 1 , Fanwen Jiang 1 , Zhuping Xu 1
Affiliation  

IntroductionTo report a family with severe ocular disorder caused by double gene variants in causative genes of autosomal dominant cataracts, GJA8 and CRYGC.Case presentationA 5-month-old boy with ...

中文翻译:

GJA8 和 CRYGC 双基因变异导致的小眼畸形和眼前节发育不全

Introduction 报告一个因常染色体显性白内障致病基因 GJA8 和 CRYGC 双基因变异导致严重眼部疾病的家庭。案例介绍一个 5 个月大的男孩患有 ...
更新日期:2023-03-15
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