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;Waardenburg PJ;Am J Hum Genet,1951
2. Albinisme partiel (leucisme) accompagne de surdimutite, d'osteomyodysplasie, de raideurs articulaires congenitales multiples et d'autres malformations congenitales;Klein D;Arch Julius Klaus Stift Vererb Forsch,1947
3. BottaniA AntonarakisSE BlouinJL.PAX3 missense mutations (G99S and R270C) in the original patient described with Klein‐Waardenburg (WS3) syndrome. ASHG Annual Meeting;1999. Program Nr: 773.
4. Homozygosity for Waardenburg syndrome;Zlotogora J;Am J Hum Genet,1995
5. Possible homozygous Waardenburg syndrome in a fetus with exencephaly