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A Novel Syntaxin 11 Gene (STX11) Mutation c.650T>C, p.Leu217Pro, in a Korean Child With Familial Hemophagocytic Lymphohistiocytosis
We report the first Far Eastern case of a Korean child with familial hemophagocytic lymphohistiocytosis (HLH) caused by a novel syntaxin 11 (STX11) mutation. A 33-month-old boy born to non-consanguineous Korean parents was admitted for intermittent fever lasting one week, pancytopenia, hepatosplenom...
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| Udgivet i: | Ann Lab Med |
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| Main Authors: | , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
The Korean Society for Laboratory Medicine
2016
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4713852/ https://ncbi.nlm.nih.gov/pubmed/26709266 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3343/alm.2016.36.2.170 |
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