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 (Peer-Reviewed Journal) 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, Scopus
  • 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

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.