Participants included 40 controls and 31 with PFD due to: nonsyndromic dense granule (DG) deficiency (PFD‐DGD, n = 9), RUNX1 haploinsufficiency (n = 6) and aggregation defects from other, uncharacterized causes (n = 16). The gene discussed is RUNX1; the disease is polyostotic fibrous dysplasia.