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).

Detalles Bibliográficos
Autores principales: Blanco, Maria Laura, Torrent, Montserrat, Bussaglia, Elena, Badell, Isabel, Nomdedéu, Josep F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
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
Descripción
Sumario: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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