SHOX was first found during a search for the cause of short stature in women with
Turner syndrome, where there is loss of genetic material from the X chromosome, typically by loss of one entire X chromosome. Since its discovery, the gene has been found to play a role in
idiopathic short stature,
Léri-Weill dyschondrosteosis, and
Langer mesomelic dysplasia.
Gene dosage effects of extra copies of SHOX may be a cause of the increased stature seen in other sex chromosome
aneuploidy conditions such as
triple X,
XYY,
Klinefelter,
XXYY and similar syndromes. ==Genetics and function==