Article
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
PloS one - 1 Jan 2016
Ansari Morad, Rainger Jacqueline, Hanson Isabel M, Williamson Kathleen A, Sharkey Freddie, Harewood Louise, Sandilands Angela, Clayton-Smith Jill, Dollfus Helene, Bitoun Pierre, Meire Francoise, Fantes Judy, Franco Brunella, Lorenz Birgit, Taylor David S, Stewart Fiona, Willoughby Colin E, McEntagart Meriel, Khaw Peng Tee, Clericuzio Carol, Van Maldergem Lionel, Williams Denise, Newbury-Ecob Ruth, Traboulsi Elias I, Silva Eduardo D, Madlom Mukhlis M, Goudie David R, Fleck Brian W, Wieczorek Dagmar, Kohlhase Juergen, McTrusty Alice D, Gardiner Carol, Yale Christopher, Moore Anthony T, Russell-Eggitt Isabelle, Islam Lily, Lees Melissa, Beales Philip L, Tuft Stephen J, Solano Juan B, Splitt Miranda, Hertz Jens Michael, Prescott Trine E, Shears Deborah J, Nischal Ken K, Doco-Fenzy Martine, Prieur Fabienne, Temple I Karen, Lachlan Katherine L, Damante Giuseppe, Morrison Danny A, van Heyningen Veronica, FitzPatrick David R
Abstract excerpt
We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations. Of these 42, the diagnoses were 31 individuals with aniridia and 11 individuals referred with a diagnosis of Gillespie syndrome (iris hypoplasia, ataxia and mild to moderate developmental delay). Array-based comparative genomic hybridization...
Read the complete abstract on PubMed