SHOX haploinsufficiency and overdosage: impact of gonadal function status.

  title={SHOX haploinsufficiency and overdosage: impact of gonadal function status.},
  author={Tsutomu Ogata and Nobutake Matsuo and Gen Nishimura},
  journal={Journal of medical genetics},
  volume={38 1},
Since its discovery in 1997, knowledge about the SHOX gene has rapidly increased. In this review, we summarise clinical features and diagnostic and therapeutic implications in SHOX haploinsufficiency and overdosage. SHOX haploinsufficiency usually results in mesomelic short stature and Turner skeletal features, including Madelung deformity with puberty, in subjects with normal gonadal function. Thus, identification of early or mild signs of Madelung deformity is pivotal for the diagnosis, and… CONTINUE READING


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