Article
A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome.
Scientific reports - 23 Feb 2016
Ni Cheng, Yan Ming, Zhang Jia, Cheng Ruhong, Liang Jianying, Deng Dan, Wang Zhen, Li Ming, Yao Zhirong
Abstract excerpt
Olmsted syndrome (OS) is a rare keratinization disorder, typically characterized by two primary diagnostic hallmarks--mutilating palmoplanter and periorificial keratoderma. However, there's a growing body of literature reporting on the phenotypic diversity of OS, including the absence of aforementioned hallmarks and the presence of some unusual clinical features. Here we presented an atypical familial case of OS...
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