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., ...Daha Fazla

ACTA OPHTHALMOLOGICA, cilt.87, sa.1, ss.52-57, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 87 Sayı: 1
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1111/j.1600-0420.2007.01082.x
  • Dergi Adı: ACTA OPHTHALMOLOGICA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.52-57
  • Anahtar Kelimeler: anterior segment dysgenesis, CYP1B1, microcornea, PAX, Peters' anomaly, PRIMARY CONGENITAL GLAUCOMA, CYTOCHROME P4501B1, MUTATIONS, GENE, CYP1B1, PAX6, MALFORMATIONS, HETEROGENEITY, CATARACTS, FAMILIES
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

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.