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Chronic Granulomatous Disease and Myelodysplastic Syndrome in a Patient with a Novel Mutation in CYBB

Chronic Granulomatous Disease (CGD) is an inborn error of immunity characterized by impaired phagocyte function, recurrent fungal and bacterial infections and granuloma formation in multiple organs. Pediatric myelodysplastic Syndrome (MDS) is a rare hematological stem cell disease that leads to an i...

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Detalles Bibliográficos
Autores principales: Reis, Bárbara C. S., Cunha, Daniela P., Bueno, Ana Paula S., Carvalho, Flavia A. A., Dutra, Juliana, Mello, Fabiana V., Ribeiro, Maria Cecília Menks, Milito, Cristiane B., da Costa, Elaine Sobral, Vasconcelos, Zilton
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535487/
https://www.ncbi.nlm.nih.gov/pubmed/34680870
http://dx.doi.org/10.3390/genes12101476