Study Advances on Short Stature Homeobox-Containing Gene Deficiency / 实用儿科临床杂志
Journal of Applied Clinical Pediatrics
;
(24)2006.
Article
Dans Chinois
| WPRIM
| ID: wpr-640112
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
langue:
Chinois
Texte intégral:
Journal of Applied Clinical Pediatrics
Année:
2006
Type:
Article
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