The first case was a compound heterozygous mutation Gly991‐to‐Cys and Arg422* (Arg422 mutated to stop codon) of ITGA2B, resulting in only 3% to 11% of αIIbβ3 surface expression and 60% retention within the cell, and a severe GT‐like phenotype with macrothrombocytopenia. The gene discussed is ITGA2B; the disease is Macrothrombocytopenia.