PAX6 analysis of two unrelated families from the Arabian Peninsula with classic hereditary aniridia.


INTRODUCTION Reports from around the world confirm that heterozygous PAX6 mutation is the major cause of hereditary aniridia (with a classic phenotype of iris hypoplasia, keratopathy, lens opacity, and foveal hypoplasia). However, genotype/phenotype reports are lacking from the Arabian Peninsula, a historically isolated region with a relatively high… (More)
DOI: 10.1080/13816810802078195


3 Figures and Tables

Slides referencing similar topics