Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).

@article{Hoth1993MutationsIT,
  title={Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).},
  author={Christopher F. Hoth and Aubrey Milunsky and N R Lipsky and Ruth Sheffer and Sterling K. Clarren and C. T. Baldwin},
  journal={American journal of human genetics},
  year={1993},
  volume={52 3},
  pages={455-62}
}
Waardenburg syndrome type I (WS-I) is an autosomal dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, pigmentary disturbances, and other developmental defects. Klein-Waardenburg syndrome (WS-III) is a disorder with many of the same characteristics as WS-I and includes musculoskeletal abnormalities. We have recently reported the identification and characterization of one of the first gene defects, in the human PAX3 gene, which causes WS-I. PAX3 is a DNA-binding… CONTINUE READING

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