Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome.

@article{Adamson2002TrisomyOT,
  title={Trisomy of the short stature homeobox-containing gene (SHOX), resulting from a duplication-deletion of the X chromosome.},
  author={Kathy A. Adamson and Ian A. Cross and Jennifer A. Batch and Gudrun A Rappold and Ian A Glass and Steve G. Ball},
  journal={Clinical endocrinology},
  year={2002},
  volume={56 5},
  pages={671-5}
}
The Turner syndrome (TS) is a complex disorder associated with almost invariant short stature and gonadal dysgenesis, as well as a variety of other major organ malformations. Recently, a homeobox-containing gene entitled short-stature homeobox-containing gene (SHOX), was isolated from a minimal short stature gene interval from the pseudoautosomal region of Xp (and Yp). Together with the demonstrable escape of SHOX from X-inactivation, this suggested SHOX to be a strong candidate gene for the… CONTINUE READING

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