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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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| Udgivet i: | J Invest Dermatol |
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| Main Authors: | , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2016
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| Fag: | |
| Online adgang: | 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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