GATA2 Deficiency Syndrome: A Case Series and Literature Review.

Abstract excerpt

GATA2 functions as a critical zinc finger transcription factor and plays indispensable roles in hematopoiesis, immune regulation, and lymphatic vascular development. GATA2 deficiency underlies a diverse phenotypic spectrum, encompassing primary lymphedema, myelodysplasia, acute myeloid leukemia, immune dysfunction, and sensorineural deafness. This report describes three sporadic cases of GATA2 deficiency syndrome...

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