After conversion with a theoretical molecular weight of PAF at 548 pg/mol, “free” PAF was 2.60 pg/mL and 1.73 pg/mL, “bound” PAF was 0.72 pg/mL and 1.60 pg/mL, and total PAF was 3.32 pg/mL and 3.50 pg/mL, in TD patient and control group, respectively. The gene discussed is PCLAF; the disease is thanatophoric dysplasia.