Review and update of mutations causing Waardenburg syndrome.
Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N.
Pingault V, et al.
Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211.
Hum Mutat. 2010.
PMID: 20127975
Free article.
Review.
Waardenburg syndrome (WS) is characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and hair, vivid blue eyes or heterochromia irides, and sensorineural hearing loss. However, other features such as dystopia canthor …
Waardenburg syndrome (WS) is characterized by the association of pigmentation abnormalities, including depigmented patches of the skin and h …