HOXD13 and Platelet storage pool disease: In the present study, a novel missense mutation of HOXD13 (NM_000523: exon2: c.G917T: p.R306L) was identified in the fifteen individuals with SPD, and this mutation did not cause haploinsufficiency of HOXD13 However, this homozygous Hoxd13 mutation promoted osteoclast differentiation, and enhanced the expression of osteoclast-related genes Rank, c-Fos, and phosphorylated p65 (p-p65).