A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family

  • J Invest Dermatol. 2015 Mar;135(3):907-909. doi: 10.1038/jid.2014.429.
Yuqing He  1 ,  Kang Zeng  2 ,  Xibao Zhang  3 ,  Qiaolin Chen  4 ,  Jiang Wu  5 ,  Hong Li  6 ,  Yong Zhou  6 ,  Gustavo Glusman  6 ,  Jared Roach  6 ,  Alton Etheridge  7 ,  Shizhen Qing  6 ,  Qiang Tian  6 ,  Inyoul Lee  6 ,  Xin Tian  8 ,  Xiaoning Wang  4 ,  Zhihua Wu  9 ,  Leroy Hood  6 ,  Yuanlin Ding  9 ,  Kai Wang  10
Affiliations
  • 1. Institute of Medical Systems Biology, Guangdong Medical College, Dongguan, China; Institute for Systems Biology, Seattle, Washington, USA; Department of Dermatology, Guangzhou Institute of Dermatology, Guangzhou, China; These authors contributed equally to this work.. Electronic address: [email protected].
  • 2. Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou, China; These authors contributed equally to this work.
  • 3. Department of Dermatology, Guangzhou Institute of Dermatology, Guangzhou, China; These authors contributed equally to this work.
  • 4. School of Bioscience & Bioengineering, South China University of Technology, Guangzhou, China.
  • 5. Department of Dermatology, Guangzhou First Municipal People's Hospital, Guangzhou, China.
  • 6. Institute for Systems Biology, Seattle, Washington, USA.
  • 7. Pacific Northwest Diabetes Research Institute, Seattle, Washington, USA.
  • 8. Department of Dermatology, Guangzhou Institute of Dermatology, Guangzhou, China.
  • 9. Institute of Medical Systems Biology, Guangdong Medical College, Dongguan, China.
  • 10. Institute for Systems Biology, Seattle, Washington, USA. Electronic address: [email protected].
PMID: 25285920 DOI: 10.1038/jid.2014.429