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

Abstract

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

• deafness
• GATA2
• lymphedema
• myelodysplastic syndrome
• warts