Article
αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum.
PloS one - 1 Jan 2020
Morais Sara, Oliveira Jorge, Lau Catarina, Pereira Mónica, Gonçalves Marta, Monteiro Catarina, Gonçalves Ana Rita, Matos Rui, Sampaio Marco, Cruz Eugénia, Freitas Inês, Santos Rosário, Lima Margarida
Abstract excerpt
BACKGROUND: Rare pathogenic variants in either the ITGA2B or ITGB3 genes have been linked to autosomal dominant macrothrombocytopenia associated with abnormal platelet production and function, deserving the designation of Glanzmann Thrombasthenia-Like Syndrome (GTLS) or ITGA2B/ITGB3-related thrombocytopenia. OBJECTIVES: To describe a series of patients with familial macrothrombocytopenia and decreased expression...
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