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

Berker, Nilufer; ALANAY, Yasemin; Elgin, Ufuk; Volkan-Salanci, Bilge; ŞİMŞEK, TÜLAY; AKARSU, AYŞE; ALİKAŞİFOĞLU, MEHMET

doi:10.1111/j.1600-0420.2007.01082.x

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

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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)

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), 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
Eskisehir Osmangazi 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.