Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report
oleh: Maria Laura Blanco, Montserrat Torrent, Elena Bussaglia, Isabel Badell, Josep F. Nomdedéu
| Format: | Article |
|---|---|
| Diterbitkan: | Wiley 2020-12-01 |
Deskripsi
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).