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aniridia
Wednesday 15 October 2003
Definition: Partial or complete loss of the iris.
Etiology
deletion of the PAX6 gene at 11p13
Associations
WAGR syndrome
Wilms tumour predisposition (17630404)
References
van Heyningen V, Hoovers JM, de Kraker J, Crolla JA. Elevated risk of Wilms tumour in aniridia cases with submicroscopic WT1 deletion. J Med Genet. 2007 Jul 14;PMID: 17630404