ANIRIDIA PHENOTYPE AND MYOPIA IN A TURKISH BOY WITH A PAX6 GENE MUTATION

ÇAĞLAYAN A. O., Robinson D.

GENETIC COUNSELING, vol.22, no.2, pp.155-159, 2011 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 22 Issue: 2
  • Publication Date: 2011
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED)
  • Page Numbers: pp.155-159
  • Keywords: PAX6, Myopia, Aniridia, De novo, LOCUS
  • Dokuz Eylül University Affiliated: No

Abstract

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.