Study Advances on Short Stature Homeobox-Containing Gene Deficiency
- VernacularTitle:矮小同源盒基因缺陷的研究进展
- Author:
bin, ZHOU
;
yu, YANG
- Publication Type:Journal Article
- Keywords:
short stature homeobox-containing gene;
idiopathic short stature;
L?ri-Weill syndrome;
Turner syndrome
- From:Journal of Applied Clinical Pediatrics
2006;0(20):-
- CountryChina
- Language:Chinese
-
Abstract:
The short stature homeobox-containing(SHOX) gene,located in the short-arm pseudoautosomal region (PAR1) of the sex chromosomes,is one of the recently discovered genes,which is related to short stature.Its encoded protein,as a transcription activator,plays an important role in the regulation of growth.It has now been confirmed that the human SHOX gene mutation can cause L?ri-Weill syndrome,Turner syndrome,idiopathic short stature growth and its related characteristic skeletal deformities.This review makes a summary about SHOX gene defects,its clinical phenotype and treatment.
