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

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).

Keywords: GATA2; deafness; lymphedema; myelodysplastic syndrome; warts.