Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.

  title={Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.},
  author={Gudrun A Rappold and Werner Friedrich Blum and Elena P. Shavrikova and Brenda J. Crowe and Ralph Roeth and Charmian A. Quigley and Judith Levine Ross and B Niesler},
  journal={Journal of medical genetics},
  volume={44 5},
BACKGROUND Short stature affects approximately 2% of children, representing one of the more frequent disorders for which clinical attention is sought during childhood. Despite assumed genetic heterogeneity, mutations or deletions of the short stature homeobox-containing gene (SHOX) are found quite frequently in subjects with short stature. Haploinsufficiency of the SHOX gene causes short stature with highly variable clinical severity, ranging from isolated short stature without dysmorphic… CONTINUE READING
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Deletions of the homeobox gene SHOX ( short stature homeobox ) are an important cause of growth failure in children with short stature

  • GA Rappold, M Fukami, Niesler Bet al
  • J Clin Endocrinol Metab
  • 2002
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For The Shox Study Group. Growth Hormone is Effective in Treatment of Short Stature Associated with SHOX Deficiency: Two-year Results of a Randomized, Controlled, Multi-Center Trial

  • WF Blum, BJ Crowe, CA Quigley
  • J Clin Endocrinol Metab 2007;92:219–28
  • 2007

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