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Chédiak-Higashi syndrome with novel gene mutation
Chédiak-Higashi syndrome (CHS) is a rare disorder of immune deficiency with autosomal recessive inheritance. Over the past 20 years, ∼500 cases were published worldwide. The mean age of onset is 5–6 years. We report here a case of CHS in a boy aged 2½ years who presented to us with pneumonia which t...
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| Publicado no: | BMJ Case Rep |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5307269/ https://ncbi.nlm.nih.gov/pubmed/28183707 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2016-216628 |
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