Article
Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies.
Molecular vision - 13 Jul 2009
Kaur Kulvinder, Ragge Nicola K, Ragoussis Jiannis
Abstract excerpt
PURPOSE: Haploinsufficiency through mutation or deletion of the forkhead transcription factor, FOXC1, causes Axenfeld-Rieger anomaly, which manifests as a range of anterior segment eye defects and glaucoma. The aim of this study is to establish whether mutation of FOXC1 contributes toward other developmental eye anomalies, namely anophthalmia, microphthalmia, and coloboma. METHODS: The coding sequence and 3;-UTR...
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