Case report and review of the literature: a unique presentation of Blau syndrome in a Palestinian family
Blau syndrome (BS) is a rare inherited systemic disorder, attributed to a gain-of-function mutation in the nucleotide-binding oligomerization domain (NOD2) gene, which results in the upregulation of pro-inflammatory cytokines. This syndrome was initially described as a classic triad of arthritis, de...
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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Frontiers Media S.A.
2025-07-01
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| Serie: | Frontiers in Pediatrics |
| Soggetti: | |
| Accesso online: | https://www.frontiersin.org/articles/10.3389/fped.2025.1482846/full |
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