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X-linked Chronic Granulomatous Disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation
Chronic Granulomatous Disease (CGD) is characterized by defects in the superoxide producing enzyme NADPH oxidase causing phagocytes to improperly clear invading pathogens. Here we report findings of a late presenting 16 year old female with X-linked CGD. The patient presented with community-acquired...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2008
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2599929/ https://ncbi.nlm.nih.gov/pubmed/18774749 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.clim.2008.07.022 |
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