SHOX and hyperinsulinemic hypoglycemia, familial, 4: SHOX deficiency can result from a variety of molecular defects including intragenic SHOX mutations, complete and partial CNVs of SHOX, and CNVs of its enhancers located in the downstream PAR1 region1, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21.