Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

Author:

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.

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference68 articles.

1. Changes in causes of low vision between 1988 and 2009 in a Dutch population of children;N Boonstra;Acta Ophthalmol,2012

2. Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype;K Gronskov;Eur J Hum Genet,1999

3. Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia;SK Dubey;Mol Vis,2015

4. Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2;AM Hever;Clin Genet,2006

5. Aniridia;M Hingorani;Eur J Hum Genet,2012

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