A gene for Waardenburg Syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12–p14.1

Abstract

Waardenburg syndrome (WS), an autosomal dominant syndrome of hearing loss and pigmentary disturbances, comprises at least two separate conditions. WS type 1 is normally caused by mutations in PAX3 located at chromosome 2q35 and is distinguished clinically by minor facial malformations. We have now located a gene for WS type 2. Two families show linkage to a… (More)
DOI: 10.1038/ng0894-509

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Cite this paper

@article{Hughes1994AGF, title={A gene for Waardenburg Syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12–p14.1}, author={Anne E. Hughes and Valerie E. Newton and Xuezhong Liu and Andrew P. Read}, journal={Nature Genetics}, year={1994}, volume={7}, pages={509-512} }