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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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Publicado no: | Sci Rep |
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Main Authors: | , , , , , , , , |
Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
Nature Publishing Group
2016
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Assuntos: | |
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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