1. 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;Waardenburgh;American Journal of Human Genetics,1951
2. Mendelian Inheritance in Man;McKusick;Baltimore: Johns Hopkins University Press.,1994
3. Waardenburg syndrome patients have mutations in the human homologue of the Pax-3 paired box gene;Tassabehji;Nature,1992
4. An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome;Baldwin;Nature,1992
5. Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg Syndrome (WS-III) as well as Waardenburg Syndrome Type I (WS-I);Hoth;American Journal of Human Genetics,1993