Abstract
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).
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APA
Blanco, M. L., Torrent, M., Bussaglia, E., Badell, I., & Nomdedéu, J. F. (2020). Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report. Clinical Case Reports, 8(12), 3193–3197. https://doi.org/10.1002/ccr3.3304
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