Bhatia, S., Bengani, H., Fish, M., Brown, A., Divizia, M.T., de Marco, R., Damante, G., Grainger, R., van Heyningen, V., Kleinjan, D.A. (2013) Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. American journal of human genetics. 93:1126-34
|
Seese, S.E., Reis, L.M., Deml, B., Griffith, C., Reich, A., Jamieson, R.V., Semina, E.V. (2021) Identification of missense MAB21L1 variants in microphthalmia and aniridia. Human Mutation. 42(7):877-890
|