De novo variant in tyrosine kinase SRC causes thrombocytopenia: case report of a second family.

This study strengthens our previous finding that hyperactive SRC kinase results in mild platelet dysfunction and thrombocytopenia with hypogranular platelets and further expands the clinical description of this syndrome to improve early recognition. PMID: 31204551 [PubMed - as supplied by publisher]
Source: Platelets - Category: Hematology Tags: Platelets Source Type: research