Many Signs, One Mutation: Early Onset Of De Novo Gata2 Deficiency Syndrome. A Case Report

Maria Laura Blanco,Montserrat Torrent,Elena Bussaglia, Isabel Badell,Josep F. Nomdedeu

CLINICAL CASE REPORTS（2020）

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摘要

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).

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deafness,GATA2,lymphedema,myelodysplastic syndrome,warts

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