Aniridia
Definition:
References:
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[1]. H Kokotas, et al. Clinical and molecular aspects of aniridia. Clin Genet. 2010 May;77(5):409-20. [Content Brief]
[2]. John A Crolla, et al. Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. Am J Hum Genet. 2002 Nov;71(5):1138-49. [Content Brief]
[3]. Shipra Bhatia, et al. Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia. Am J Hum Genet. 2013 Dec 5;93(6):1126-34. [Content Brief]
[4]. Xibo Zhang, et al. Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression. Hum Mutat. 2015 Dec;36(12):1164-7. [Content Brief]
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