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Medical Term:

Waardenburg types 1 and 3 syndrome gene

Pronunciation: vahr'den-burg


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.

© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.