Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

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

Medicine, Genetics, Molecular Genetics +14

Pax‐3, a novel murine DNA binding protein expressed during early neurogenesis.

Martyn Goulding, Georges Chalepakis, Urban Deutsch et al. · The EMBO Journal · 1991 · 914 citations · Full text

Medicine, Developmental Biology, Genetics +14

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

Carl C.T. Ton, Harri Hirvonen, Hiroshi Miwa et al. · Cell · 1991 · 870 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

Douglas J. Epstein, Michel Vekemans, Philippe Gros · Cell · 1991 · 663 citations

Life Sciences, Developmental Biology, Genetics +14

A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.

Waardenburg Pj · PubMed · 1951 · 643 citations · Full text

Medicine, Human Development, Ophthalmology +17