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SHOX gene

Known as: SS, Short Stature Homeobox Gene, SHORT STATURE HOMEOBOX 
This gene is involved in transcription and growth.
National Institutes of Health

Related topics

Related topics

5 relations
Cell Cycle ControlS primeShort Stature Homeobox ProteinTranscription, Genetic

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2010
2010
Enhancer elements upstream of the SHOX gene are active in the developing limb
Léri-Weill Dyschondrosteosis (LWD) is a dominant skeletal disorder characterized by short stature and distinct bone anomalies… 
2008
2008
Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis
AbstractAlthough short-stature homeobox-containing gene (SHOX ) haploinsufficiency is responsible for Léri–Weill… 
2006
2006
Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer.
2006
2006
PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri‐Weill dyschondrosteosis (LWD) probands
Léri‐Weill dyschondrosteosis (LWD) is a skeletal dysplasia characterized by disproportionate short stature and Madelung deformity… 
2003
2003
Familial Growth and Skeletal Features Associated with SHOX Haploinsufficiency
This study was designed to determine the intrafamilial effect of SHOX haploinsufficiency on stature, by comparing the growth and… 
Highly Cited
2002
Highly Cited
2002
Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood
In 1878, Madelung described a painful, disabling, and deforming abnormality of the forearm in which misalignment of the bones of… 
Highly Cited
2001
Highly Cited
2001
The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator.
Functional impairment of the human homeobox gene SHOX causes short stature and Madelung deformity in Leri-Weill syndrome (LWS… 
Highly Cited
2001
Highly Cited
2001
Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity
Abstract. Dyschondrosteosis (DCO; also called Léri-Weill syndrome) is a skeletal dysplasia characterised by disproportionate… 
2000
2000
Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia
Abstract. Dyschondrosteosis (DCO) and hypochondroplasia (HCH) are common skeletal dysplasias characterized by disproportionate… 
1999
1999
SHOX gene mutations and deletions in dyschondrosteosis or Leri‐Weill syndrome
Dyschondrosteosis is an autosomal dominant form of mesomelic dysplasia that is often combined with a deformity of the forearms… 
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