Fig. 1From: A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesisA. The pedigree of the familyThe fraternal twins, their mother, and their maternal grandfather were sufferers. Participants with asterisks provided peripheral blood samples for whole exome sequencing. B. PAX6 c. 157G > A heterozygous mutation cosegregated with the clinical phenotype in this familyBack to article page