Three monoallelic mutations, already described in the literature [44,45], were detected in MYH9 patients: 2 patients had been referred to our center with the clinical suspicion of MYH9 (p.Arg1165Cys, p.Glu1841Lys), while the remaining individual had been clinically misdiagnosed as having BSS. Here, MYH9 is linked to Bernard-Soulier syndrome.