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Article

Mecom mutation related to radioulnar synostosis with amegakaryocytic thrombocytopenia reduces HSPCs in mice.

Blood advances - 26 Sept 2023

Nagai Koki, Niihori Tetsuya, Muto Akihiko, Hayashi Yoshikazu, Abe Taiki, Igarashi Kazuhiko, Aoki Yoko

Abstract excerpt

Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is an inherited bone marrow failure syndrome characterized by the congenital fusion of the forearm bones. RUSAT is largely caused by missense mutations that are clustered in a specific region of the MDS1 and EVI1 complex locus (MECOM). EVI1, a transcript variant encoded by MECOM, is a zinc finger transcription factor involved in hematopoietic...

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Identifiers

PMID: 37099686
DOI: 10.1182/bloodadvances.2022008462
PMCID: PMC10509669

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