SHOX deficiency, or short stature homeobox-containing gene deficiency, is a genetic condition caused by changes to or absence of the SHOX gene. SHOX deficiency is associated with a wide spectrum of short-stature phenotypes, including Turner syndrome and Léri–Weill dyschondrosteosis.

Learn more about our active SHOX deficiency clinical trials below. To view all BioMarin’s historical trials in SHOX deficiency, click here.