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Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report
We report a case with a broad spectrum of symptoms, related to GATA2 deficiency syndrome, which emerged as early as at 6 months of age. They ranged from lymphedema, deafness to myelodysplastic syndrome (MDS).
Autores principales: | Blanco, Maria Laura, Torrent, Montserrat, Bussaglia, Elena, Badell, Isabel, Nomdedéu, Josep F. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752306/ https://www.ncbi.nlm.nih.gov/pubmed/33363905 http://dx.doi.org/10.1002/ccr3.3304 |
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