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What is Aniridia Genetics India about?

This study investigates the mutational spectrum of the PAX6 gene in southern Indian patients with sporadic and familial aniridia, identifying 13 different mutations, including 11 novel ones. The findings confirm that haploinsufficiency of PAX6 is responsible for the aniridia phenotype, exhibiting significant phenotypic variability among affected individuals. The research expands the understanding of PAX6 mutations and their associated ocular anomalies, contributing valuable data to the field of genetic opht

Author

prateek bhatia

Language

EN