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Waardenburg types 1 and 3 syndrome gene

Pronunciation: vahr'den-burg

Definition: mutations of the gene are responsible for Waardenburg types 1 and 3 syndromes; located at 2q35; gene encodes a DNA-binding protein that may regulate the expression of other genes; mutations cause neural crest-derived melanocyte deficiency.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.