Elliptical anterior iris stromal defects associated with PAX6 gene sequence changes
S Sharan, F Mirzayans, T Footz, M Walter… - Journal of American …, 2008 - Elsevier
BACKGROUND: PAX6 gene mutations have been observed in aniridia and other anterior
segment abnormalities. We report a novel PAX6 genotype and phenotype with an
autosomal-dominant mode of inheritance in two unrelated pedigrees. METHODS: Two
unrelated pedigrees were identified: one involving four generations; the other involving
three generations. Full ocular examination was performed on all available members. Total
genomic DNA from peripheral blood was used for genetic analysis. RESULTS: A novel …
segment abnormalities. We report a novel PAX6 genotype and phenotype with an
autosomal-dominant mode of inheritance in two unrelated pedigrees. METHODS: Two
unrelated pedigrees were identified: one involving four generations; the other involving
three generations. Full ocular examination was performed on all available members. Total
genomic DNA from peripheral blood was used for genetic analysis. RESULTS: A novel …