人矮小同源盒基因在身材矮小中的研究进展  

Research development of short stature homeobox containing gene in short stature

作　　者：谢理玲[1] 

机构地区：[1]江西省儿童医院内分泌遗传代谢科,南昌330006

出　　处：《中华实用儿科临床杂志》2014年第20期1526-1527,共2页Chinese Journal of Applied Clinical Pediatrics

摘　　要：儿童身材矮小是儿科内分泌常见病,现已证实人矮小同源盒基因（SHOX基因）的缺失和突变是儿童Leri-Weill综合征、Turner综合征及特发性身材矮小和其他具有矮小表型疾病的分子遗传学基础,SHOX基因缺陷的临床表型具有明显的异质性,早期发现SHOX基因的缺陷对矮小症的诊断和治疗具有重要的参考价值和指导意义。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.

关 键 词：人矮小同源盒基因 Leri-Weill综合征 TURNER综合征 特发性身材矮小 

分 类 号：R725.8[医药卫生—儿科]