Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant
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DOI: 10.1111/bjh.18491
Abstract: Germline mutations in tubulin beta class I (TUBB), which encodes one of the β‐tubulin isoforms, were previously associated with neurological and cutaneous abnormalities. Here, we describe the first case of inherited bone marrow (BM) failure,… read more here.
Keywords: inherited bone; bone marrow; beta class; tubulin beta ... See more keywords