Research development of short stature homeobox containing gene in short stature / 中华实用儿科临床杂志

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.