macrothrombocytopenia autosomal dominant TUBB1-related
macrothrombocytopenia autosomal dominant TUBB1-related
An autosomal dominant blood disorder (OMIM:613112) characterised by increased platelet size and decreased number of circulating platelets.Molecular pathology
Defects in TUBB1, which encodes a tubulin, cause macrothrombocytopenia autosomal dominant TUBB1-related or MAD-TUBB1