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Updated: Nov 24, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report
Maria Laura Blanco1, Montserrat Torrent2, Elena Bussaglia1
1Department of Hematology Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona IIB Sant Pau and Institut Josep Carreras Barcelona Spain.
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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