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GATA2 deficiency phenotype associated with tandem duplication of GATA2 and overexpression of GATA2-AS1
A 3-year-old girl of nonconsanguineous healthy parents presented with cervical and mediastinal lymphadenopathy due to Mycobacterium fortuitum infection. Routine blood analysis showed normal hemoglobin, neutrophils, and platelets but profound mononuclear cell deficiency (monocytes < 0.1 × 10(9)/L;...
Autores principales: | Singh, Preeti, Heer, Maninder, Resteu, Anastasia, Mikulasova, Aneta, Reza, Mojgan, Largeaud, Laëtitia, Dufrechou, Stéphanie, Prade, Naïs, Dickinson, Rachel E., Bustamante, Jacinta, Neven, Bénédicte, Bigley, Venetia, Delabesse, Eric, Rico, Daniel, Pasquet, Marlène, Collin, Matthew |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society of Hematology
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8714714/ https://www.ncbi.nlm.nih.gov/pubmed/34638133 http://dx.doi.org/10.1182/bloodadvances.2021005217 |
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