Jia-Lin Zhang

Diverse PAX6 variants in three Chinese families with congenital aniridia: genotype–phenotype correlations and diagnostic implications

To report three families with congenital aniridia harboring different types of PAX6 variants, analyze their genetic characteristics and genotype–phenotype correlations, and explore the value of a multi-technique combined detection strategy in the molecular diagnosis of aniridia. Systematic ophthalmic e...