Research development of short stature homeobox containing gene in short stature
10.3760/cma.j.issn.2095-428X.2014.20.003
- VernacularTitle:人矮小同源盒基因在身材矮小中的研究进展
- Author:
Liling XIE
- Publication Type:Journal Article
- Keywords:
Short stature homeobox containing gene;
Leri-Weill syndrome;
Turner syndrome;
Idiopathic short stature
- From:
Chinese Journal of Applied Clinical Pediatrics
2014;29(20):1526-1527
- CountryChina
- Language:Chinese
-
Abstract:
Children short stature is pediatric endocrine disease.It has now been confirmed that short stature homeobox gene(SHOX gene)deletion and mutation are the molecular genetic basis of children Leri-Weill syndrome,Turner syndrome,idiopathic short stature and other short stature phenotype.SHOX gene defect has obvious heterogeneity in clinical phenotype.Early detection of SHOX gene defects provides important reference value and guiding significance for short stature diagnosis and treatment.
