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
Mentioned in ?