1. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia. (12th April 2014) Authors: Deml, B.; Reis, L.M.; Maheshwari, M.; Griffis, C.; Bick, D.; Semina, E.V. Journal: Clinical genetics Issue: Volume 86:Number 5(2014:Nov.) Page Start: 475 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗