Article
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.
American journal of medical genetics. Part A - 1 Mar 2008
Robinson David O, Howarth Rachel J, Williamson Kathleen A, van Heyningen Veronica, Beal Sarah J, Crolla John A
Abstract excerpt
A series of 125 patients referred primarily with aniridia classified as either sporadic (74), familial (24), or in association with WAGR syndrome (14) or other malformations (13) was analysed for mutations, initially by karyotyping and targeted FISH analysis of chromosome 11p13. These methods identified mutations in a significant proportion of patients, 34/125 (27%). Two cases had chromosome rearrangements...
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