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

TitleA gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family.
Publication TypeJournal Article
Year of Publication2015
AuthorsHe Y, Zeng K, Zhang X, Chen Q, Wu J, Li H, Zhou Y, Glusman G, Roach J, Etheridge A, Qing S, Tian Q, Lee I, Tian X, Wang X, Wu Z, Hood L, Ding Y, Wang K
JournalJ Invest Dermatol
Volume135
Issue3
Pagination907-9
Date Published2015 Mar
ISSN1523-1747
KeywordsAdult, Asian Continental Ancestry Group, Family, Humans, Keratoderma, Palmoplantar, Diffuse, Male, Mutation, Papilloma, Phenotype, Skin, TRPV Cation Channels
DOI10.1038/jid.2014.429
Alternate JournalJ. Invest. Dermatol.
PubMed ID25285920