Neonatal-Onset Refractory Thrombocytopenia and Anemia Associated With a Homozygous In-Frame NFE2 Duplication
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BACKGROUND NFE2 encodes p45/NF-E2, a transcriptional regulator of megakaryocyte maturation and platelet production. However, germline NFE2-associated cytopenias are rare; consequently, the clinical spectrum is incompletely defined. CASE REPORT We report the ca... ...
