Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.

@article{Chen2010NovelMO,
  title={Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.},
  author={Hongsheng Chen and Lu Jiang and Zhiguo Xie and Lingyun Mei and Chufeng He and Zhengmao Hu and Kun Xia and Yong Feng},
  journal={Biochemical and biophysical research communications},
  year={2010},
  volume={397 1},
  pages={70-4}
}
Waardenburg syndrome (WS) is a rare disorder characterized by distinctive facial features, pigment disturbances, and sensorineural deafness. There are four WS subtypes. WS1 is mostly caused by PAX3 mutations, while MITF, SNAI2, and SOX10 mutations are associated with WS2. More than 100 different disease-causing mutations have been reported in many ethnic groups, but the data from Chinese patients with WS remains poor. Herein we report 18 patients from 15 Chinese WS families, in which five cases… CONTINUE READING
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