Olmsted syndrome (OLMS) is a very rare congenital disorder characterized by palmoplantar and periorificial keratoderma, alopecia in most cases, and severe itching.
Lin Z, Chen Q, Lee M, Cao X, Zhang J, Ma D, Chen L, Hu X, Wang H, Wang X, Zhang P, Liu X, Guan L, Tang Y, Yang H, Tu P, Bu D, Zhu X, Wang K, Li R, Yang Y
タイトル
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndrome.