GENETIC COUNSELING, vol.22, no.2, pp.155-159, 2011 (SCI-Expanded)
Article / Article
Science Citation Index Expanded (SCI-EXPANDED)
PAX6, Myopia, Aniridia, De novo, LOCUS
Dokuz Eylül University Affiliated:
Aniridia phenotype and myopia in a Turkish boy with a PAX6 gene mutation: A boy with bilateral aniridia, iris coloboma, glaucoma, myopia and slight developmental delay was found to have a frame shift mutation in the PAX6 gene. The c.474delC mutation was de nova and both parents had a normal eye phenotype.