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Article

Phenotypic heterogeneity in individuals withMECOMvariants in 2 families

12 Jan 2022

Abstract excerpt

MECOM encodes the transcriptional regulators, EVI1 and MDS1-EVI1, from two distinct transcription start sites. EVI1 plays important roles in hematopoiesis and stem cell self-renewal. Recently, our group and others revealed that individuals with MECOM variants present diverse hematological and skeletal defects, including radioulnar synostosis (RUS). In the present study, we analyzed two families suspected with...

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PMID: 35020829
DOI: 10.1182/bloodadvances.2020003812

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