Article
Review and update of mutations causing Waardenburg syndrome.
Human mutation - 1 Apr 2010
Pingault Véronique, Ente Dorothée, Dastot-Le Moal Florence, Goossens Michel, Marlin Sandrine, Bondurand Nadège
Abstract excerpt
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 canthorum, musculoskeletal abnormalities of the limbs, Hirschsprung disease, or neurological defects are found in subsets of patients and used for the...
Topics
- Humans
- Mutation
- Transcription Factors
- Waardenburg Syndrome