HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

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

Abstract
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 clinical and molecular data associated SHOX gene defects. Functional ongoing studies are expected to improve our understanding of the SHOX gene as comprising part of a genetic process responsible for normal growth and bone development.
AuthorsSofia K Leka, Sofia Kitsiou-Tzeli, Ariadni Kalpini-Mavrou, Emmanuel Kanavakis
JournalHormones (Athens, Greece) (Hormones (Athens)) Vol. 5 Issue 2 Pg. 107-18 ( 2006) ISSN: 1109-3099 [Print] Switzerland
PMID16807223 (Publication Type: Journal Article, Review)
Chemical References
  • Homeodomain Proteins
  • SHOX protein, human
  • Short Stature Homeobox Protein
Topics
  • Arm Bones (diagnostic imaging)
  • Bone Diseases, Developmental (genetics)
  • Dwarfism (genetics)
  • Growth Disorders (genetics)
  • Homeodomain Proteins (genetics)
  • Humans
  • Mutation (physiology)
  • Osteochondrodysplasias (genetics)
  • Radiography
  • Short Stature Homeobox Protein
  • Syndrome
  • Turner Syndrome (genetics)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: