A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum


Berker N., ALANAY Y., Elgin U., Volkan-Salanci B., ŞİMŞEK T., AKARSU A. N., ...More

ACTA OPHTHALMOLOGICA, vol.87, no.1, pp.52-57, 2009 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 87 Issue: 1
  • Publication Date: 2009
  • Doi Number: 10.1111/j.1600-0420.2007.01082.x
  • Journal Name: ACTA OPHTHALMOLOGICA
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED)
  • Page Numbers: pp.52-57
  • Keywords: anterior segment dysgenesis, CYP1B1, microcornea, PAX, Peters' anomaly, PRIMARY CONGENITAL GLAUCOMA, CYTOCHROME P4501B1, MUTATIONS, GENE, CYP1B1, PAX6, MALFORMATIONS, HETEROGENEITY, CATARACTS, FAMILIES
  • Acibadem Mehmet Ali Aydinlar University Affiliated: No

Abstract

To test the association of genes involved in anterior segment development in a family with autosomal dominantly inherited Peters' anomaly (PA) with a unique ocular phenotype.