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Expanding the Mutation Spectrum of Ichthyosis with Confetti
Ichthyosis with confetti is a rare, autosomal dominant disorder caused by frameshift mutations in KRT10 or KRT1 and characterized by the development of white, genetically revertant macules in red, diseased skin. All cases result from mutations affecting the tail domains of keratin-10 or keratin-1, a...
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| Publicado no: | J Invest Dermatol |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5705074/ https://ncbi.nlm.nih.gov/pubmed/27664712 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jid.2016.07.005 |
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