A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.

@article{Zhang2003AMI,
  title={A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.},
  author={Xuejun Zhang and Jizheng Chen and Sen Yang and Yong Cui and Xiao-yan Xiong and Ping-ping He and P Dong and Shi-jie Xu and Yue-bin Li and Qing Sheng Zhou and Yuan Wang and Wei Huang},
  journal={Journal of dermatological science},
  year={2003},
  volume={32 1},
  pages={11-7}
}
BACKGROUND hidrotic ectodermal dysplasia (HED) or Clouston syndrome is a rare autosomal dominant disorder affecting the skin and its derivatives. It is characterized by the triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis. To date, all mutations have been involving in three codons: G11R, A88V and V37E in the connexin 30 (Cx30) gene have been shown to cause this disorder. OBJECTIVE in order to analyze the mutations of the Cx30 gene in Chinese Han patients with HED. METHODS… CONTINUE READING