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The article discusses congenital aniridia, a developmental eye disorder caused by mutations in the PAX6 gene located on chromosome 11p13, with a focus on the Indian population. It highlights the variability in phenotype among affected individuals, the impact of consanguineous marriages on genetic mutations, and the association of PAX6 mutations with various ocular anomalies. The study emphasizes the need for genetic screening and counseling to address the high prevalence of aniridia and related disorders in

Author

prateek bhatia

Language

EN