Novel clinical presentation and PAX6 mutation in families with congenital aniridia

Abstract excerpt

Purpose To explore the clinical phenotype and genetic defects of families with congenital aniridia. Methods Four Chinese families with aniridia were enrolled in this study. The detailed ocular presentations of the patients were recorded. Whole exome sequencing (BGI MGIEasy V4 chip) was used to detect the gene mutation. Sanger sequencing was performed to validate the potential pathogenic variants, and segregation...

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