SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature.

@article{Fukami2016SHOXHA,
  title={SHOX Haploinsufficiency as a Cause of Syndromic and Nonsyndromic Short Stature.},
  author={Maki Fukami and Atsuhito Seki and Tsutomu Ogata},
  journal={Molecular syndromology},
  year={2016},
  volume={7 1},
  pages={3-11}
}
SHOX in the short arm pseudoautosomal region (PAR1) of sex chromosomes is one of the major growth genes in humans. SHOX haploinsufficiency results in idiopathic short stature and Léri-Weill dyschondrosteosis and is associated with the short stature of patients with Turner syndrome. The SHOX protein likely controls chondrocyte apoptosis by regulating… CONTINUE READING