MYSM1 is mutated in a family with transient transfusion-dependent anemia, mild thrombocytopenia, and low NK- and B-cell counts
2013
To the editor:
Several inherited bone marrow failure syndromes (IBMFSs) have been characterized, such as Fanconi anemia; however, about 1 in 4 IBMFS patients remain unclassified.[1][1],[2][2] Next-generation sequencing can be a powerful tool to identify novel genetic etiologies in patients with
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