Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia

Shipra Bhatia, Hemant Bengani, Margaret Fish, Alison Brown, Maria Teresa Divizia, Riccardo De Marco, Guiseppe Damante, Robert Grainger, Veronica Van Heyningen, Dirk A. Kleinjan

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Medicine & Life Sciences