Short stature and dysmorphology associated with defects in the SHOX gene.

  title={Short stature and dysmorphology associated with defects in the SHOX gene.},
  author={Sofia K Leka and Sophia Kitsiou-Tzeli and Ariadni Kalpini-Mavrou and Emmanuel Kanavakis},
  volume={5 2},
Since its discovery in 1997, knowledge about the SHOX gene ( Short stature HOmeoboX-containing gene) has rapidly advanced. Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for growth retardation in Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia and Turner syndrome. Furthermore, SHOX has a broad functional scope and leads to a variety of different morphological-skeletal stigmata associated with these syndromes. This article reviews… CONTINUE READING


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