Inherited bone marrow failure with macrothrombocytopenia due to germline tubulin beta class I (TUBB) variant

Summary 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, including marked thrombocytopenia, morphological a...

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Veröffentlicht in:	British journal of haematology 2023-01, Vol.200 (2), p.222-228
Hauptverfasser:	Shah, Yash B., Lin, Ping, Chen, Stone, Zheng, Alan, Alcaraz, Wendy, Towne, Meghan C., Gabriel, Courtney, Bhoj, Elizabeth J., Lambert, Michele P., Olson, Timothy S., Frank, Dale M., Ellis, Colin A., Babushok, Daria V.
Format:	Artikel
Sprache:	eng
Schlagworte:	6pLOH Aplasia Bone dysplasia Bone marrow bone marrow failure Bone Marrow Failure Disorders - genetics Chromosome Deletion Chromosomes Dysplasia Germ Cells Hematology Hepatitis C Heterozygosity Humans Immunosuppression inherited thrombocytopenia Isoforms Loss of heterozygosity Mutants Pancytopenia Pancytopenia - genetics Ribavirin Thrombocytopenia Thrombocytopenia - genetics TUBB Tubulin Tubulin - genetics tubulinopathies
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