Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report.

Maria Laura BlancoMontserrat TorrentElena BussagliaIsabel BadellJosep F Nomdedéu

Published in: Clinical case reports (2020)

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).

Keyphrases

early onset
late onset
transcription factor
case report