Gillespie syndrome phenotype withat(x;11)(p22.32;p12) de novo translocation

The human PAX6 gene is mutated in two patients with aniridia

Tim Jordan, Isabel M. Hanson, Dmitri Zaletayev et al. · Nature Genetics · 1992 · 570 citations

Life Sciences, Genetics, Molecular Genetics +7

Aniridia, Cerebellar Ataxia, and Oligophrenia in Siblings

Frederick D. Gillespie · Archives of Ophthalmology · 1965 · 93 citations

Medicine, Neurology, Pediatrics +13

Absence of PAX6 Gene Mutations in Gillespie Syndrome (Partial Aniridia, Cerebellar Ataxia, and Mental Retardation)

Tom Glaser, Carl C.T. Ton, Robert F. Mueller et al. · Genomics · 1994 · 59 citations

Life Sciences, Genetics, Molecular Genetics +14

Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia)

J. François, F. Lentini, F. De Rouck · Ophthalmic Genetics · 1984 · 35 citations

Life Sciences, Genetics, Neurology +12

[The significance of atypical colobomata and defects of the iris for the diagnosis of the hereditary aniridia syndrome (author's transl)].

Delleman Jw, Winkelman Je · PubMed · 1973 · 12 citations

Medicine, Genetics, Ophthalmology +14