A de novo nonsense mutation of <i>PAX6</i> gene in a patient with aniridia, ataxia, and mental retardation

<i>Pax-6</i>, a murine paired box gene, is expressed in the developing CNS

Claudia Walther · Development · 1991 · 1.2K citations

Mouse Small eye results from mutations in a paired-like homeobox-containing gene

Robert E. Hill, Jack Favor, Brigid L.M. Hogan et al. · Nature · 1991 · 1.2K citations

Knockout Mouse, Ocular Disease, Developmental Biology +8

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

Tom Glaser, Lisa I. Jepeal, Janice G. Edwards et al. · Nature Genetics · 1994 · 705 citations

Ocular Disease, Ophthalmology, Medicine +4

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

Tom Glaser, David S. Walton, Richard L. Maas · Nature Genetics · 1992 · 663 citations

Allelic Variant, Genetic Disorder, Genetics +11

The human PAX6 gene is mutated in two patients with aniridia

Tim Jordan, Isabel M. Hanson, Dmitri Zaletayev et al. · Nature Genetics · 1992 · 567 citations

Genetic Disorder, Genetics, Pathogenesis +5