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

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