Open AccessMany signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report
Author(s) -
Blanco Maria Laura,
Torrent Montserrat,
Bussaglia Elena,
Badell Isabel,
Nomdedéu Josep F.
Publication year - 2020
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3304
Subject(s) - medicine , lymphedema , pediatrics , mutation , genetics , cancer , biology , breast cancer , gene
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).