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Novel Gene Deletion in NLRC4 Expanding the Familial Cold Inflammatory Syndrome Phenotype
Familial cold inflammatory syndrome (FCAS) is a rare, inherited inflammatory disease characterized by episodes of fever, rash, and arthralgias after exposure to cold stimuli. Previous literature has established FCAS linked to autosomal dominant mutations in the NLRP3 (CIAS1) and NLRP12 genes. Moreov...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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SAGE Publications
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7268108/ https://www.ncbi.nlm.nih.gov/pubmed/32537258 http://dx.doi.org/10.1177/2152656720928062 |