Of the 70 patients enrolled in this study, molecular characterization of GT was achieved in 12 patients, while the causative mutation/s was recognized in 8 cases of BSS, in 2 with CHS, 1 with HPS, 3 with MYH9-RD, 1 with CAMT, and 1 with THC2 (10 men and 18 women) (Table 2). This evidence concerns the gene MYH9 and Hermansky-Pudlak syndrome.