A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD

Abstract Background The genotype characteristics and their associated clinical phenotypes in patients with aniridia were analyzed to explore pathogenic variants using whole-exome sequencing. Methods One patient with aniridia was enrolled at the Beijing Tongren Hospital. Comprehensive ophthalmic and...

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Main Authors: Qian Wang (Author), Wen Bin Wei (Author), Xiang Yu Shi (Author), Wei Ning Rong (Author)
Format: Book
Published: BMC, 2023-08-01T00:00:00Z.
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3rd Floor Main Library

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