A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, hypopigmentation, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase. There is little experience in the accelerat...

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Detalles Bibliográficos
Autores principales: Wu, X.L., Zhao, X.Q., Zhang, B.X., Xuan, F., Guo, H.M., Ma, F.T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Associação Brasileira de Divulgação Científica 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423745/
https://www.ncbi.nlm.nih.gov/pubmed/28355352
http://dx.doi.org/10.1590/1414-431X20165727

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5423745/
https://www.ncbi.nlm.nih.gov/pubmed/28355352
http://dx.doi.org/10.1590/1414-431X20165727

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