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57th Annual ESPE (ESPE 2018)

Athens, Greece
27 Sep 2018 - 29 Sep 2018

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ESPE 2018 57th European Society for Paediatric Endocrinology Annual Meeting 27-29 September 2018 Athens, Greece

Working Groups

ESPE Bone and Growth Plate Working Group (BGP)

hrp0089wg3.2 | ESPE Bone and Growth Plate Working Group (BGP) | ESPE2018

SHOX - From Gene to Growth Plate

Rappold Gudrun

SHOX deficiency is the most frequent genetic growth disorder associated with isolated and syndromic forms of short stature. Caused by mutations in the homeobox gene SHOX, its varied clinical manifestations include isolated short stature, Léri-Weill dyschondrosteosis, and Langer mesomelic dysplasia. In addition, SHOX deficiency contributes to the skeletal features in Turner syndrome. Causative SHOX mutations have allowed downstream pathology to be linked ...