Mecom mutation related to radioulnar synostosis with amegakaryocytic thrombocytopenia reduces HSPCs in mice.
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DOI: 10.1182/bloodadvances.2022008462
Abstract: Radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT) is an inherited bone marrow failure syndrome characterized by congenital fusion of the forearm bones. RUSAT is largely caused by missense mutations that are clustered in a specific region… read more here.
Keywords: synostosis amegakaryocytic; radioulnar synostosis; mutation; mice ... See more keywords