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

Berker, Nilufer; ALANAY, YASEMİN; 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

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, Scopus)

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.