Article
Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus.
Genetics - 1 May 2000
Hallsson J H, Favor J, Hodgkinson C, Glaser T, Lamoreux M L, Magnúsdóttir R, Gunnarsson G J, Sweet H O, Copeland N G, Jenkins N A, Steingrímsson E
Abstract excerpt
Mouse microphthalmia transcription factor (Mitf) mutations affect the development of four cell types: melanocytes, mast cells, osteoclasts, and pigmented epithelial cells of the eye. The mutations are phenotypically diverse and can be arranged in an allelic series. In humans, MITF mutations cause Waardenburg syndrome type 2A (WS2A) and Tietz syndrome, autosomal dominant disorders resulting in deafness and...
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