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An Autoinflammatory Disease Due to Homozygous Deletion of the IL1RN Locus
We describe a patient with an autoinflammatory disease in which the main clinical features are pustular rash, marked osteopenia, lytic bone lesions, respiratory insufficiency, and thrombosis. Genetic studies revealed a 175-kb homozygous deletion at chromosome 2q13, which encompasses several interleu...
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| Auteurs principaux: | , , , , , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2009
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2803085/ https://ncbi.nlm.nih.gov/pubmed/19494219 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa0809568 |
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