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microophthalmia transcription factor gene


Definition: gene that when mutated causes Waardenburg syndrome type II and Tietz syndrome in at least some subsets of families with these autosomal dominant syndromes of hearing impairment; located on 3p12.3-14.1; gene encodes homodimeric transcription factor protein.

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