Aniridia due to a novel microdeletion affecting $$\textit{PAX6}$$ PAX 6 regulatory enhancers: case report and review of the literature

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources

Helen V. Firth, Shola M. Richards, A. Paul Bevan et al. · The American Journal of Human Genetics · 2009 · 2.1K citations · Full text

Life Sciences, Bioinformatics, Genetics +14

Association of Wilms's Tumor with Aniridia, Hemihypertrophy and Other Congenital Malformations

Robert W. Miller, Joseph F. Fraumeni, Miriam D. Manning · New England Journal of Medicine · 1964 · 609 citations

Medicine, Nephrology, Oncology +16

Frequent Chromosome Aberrations Revealed by Molecular Cytogenetic Studies in Patients with Aniridia

John A. Crolla, Veronica van Heyningen · The American Journal of Human Genetics · 2002 · 223 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

Judy Fantes, B. Redeker, Matthew Breen et al. · Human Molecular Genetics · 1995 · 218 citations

Life Sciences, Genetics, Molecular Genetics +17

3′ deletions cause aniridia by preventing <i>PAX6</i> gene expression

James D. Lauderdale, Jonathan S. Wilensky, Edward R. Oliver et al. · Proceedings of the National Academy of Sciences · 2000 · 169 citations · Full text

Medicine, Genetics, Molecular Genetics +13