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A novel mutation in TRPV3 gene causes atypical familial Olmsted syndrome

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 aforemention...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Ni, Cheng, Yan, Ming, Zhang, Jia, Cheng, Ruhong, Liang, Jianying, Deng, Dan, Wang, Zhen, Li, Ming, Yao, Zhirong
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4763183/
https://ncbi.nlm.nih.gov/pubmed/26902751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep21815
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