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Tartrate resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
We studied ten individuals from eight families showing features consistent with the immuno-osseus dysplasia spondyloenchondrodysplasia (SPENCD). Of particular note was the diverse spectrum of autoimmune phenotypes observed in these patients, including systemic lupus erythematosus (SLE), Sjögren'...
| Formato: | Texto |
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| Lenguaje: | English |
| Publicado: |
2011
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3030921/ https://www.ncbi.nlm.nih.gov/pubmed/21217755 http://dx.doi.org/10.1038/ng.748 |