Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia

Authors: Shipra Bhatia, Hemant Bengani, Margaret B. Fish, Alison Brown, Maria Teresa Divizia, Riccardo De Marco, Giuseppe Damante, Robert M. Grainger, Veronica van Heyningen, Dirk A. Kleinjan - The American Journal of Human Genetics 2013 cited by 204