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Familial Hemophagocytic Lymphohistiocytosis: A Rare Mutation of STXBP2 in Exon 19
Familial hemophagocytic lymphohistiocytosis (FHLH) is a fulminant rapidly progressive disorder characterized by uncontrolled immune system activation. Over the last decade, STXBP2 mutations have been reported as causative. We report a baby with typical clinical features and supportive laboratory fin...
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| Publicado no: | J Pediatr Genet |
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| Main Authors: | , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Georg Thieme Verlag KG
2020
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| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6976306/ https://ncbi.nlm.nih.gov/pubmed/31976148 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1694778 |
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