186-212dup (p.Ala63_Ala71dup), in the exon 1 of HOXD13, which resulted in variable expressivity, such as SPD, camptodactyly, symphalangism, transverse phalanx, and osseous fusion of the third metacarpal with the proximal phalanx (Gong et al., 2011). Here, HOXD13 is linked to Platelet storage pool disease.