Article
Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.
Human genetics - 1 Jul 2001
Grønskov K, Olsen J H, Sand A, Pedersen W, Carlsen N, Bak Jylling A M, Lyngbye T, Brøndum-Nielsen K, Rosenberg T
Abstract excerpt
Aniridia is a severe eye disease characterized by iris hypoplasia; both sporadic cases and familial cases with an autosomal dominant inheritance exist. Mutations in the PAX6 gene have been shown to be the genetic cause of the disease. Some of the sporadic cases are caused by large chromosomal deletions, some of which also include the Wilms tumor gene (WAGR syndrome), resulting in an increased risk of developing...
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