中华实用儿科临床杂志
中華實用兒科臨床雜誌
중화실용인과림상잡지
Journal of Applied Clinical Pediatrics
2014年
20期
1526-1527
,共2页
人矮小同源盒基因%Leri-Weill综合征%Turner综合征%特发性身材矮小
人矮小同源盒基因%Leri-Weill綜閤徵%Turner綜閤徵%特髮性身材矮小
인왜소동원합기인%Leri-Weill종합정%Turner종합정%특발성신재왜소
Short stature homeobox containing gene%Leri-Weill syndrome%Turner syndrome%Idiopathic short stature
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.
兒童身材矮小是兒科內分泌常見病,現已證實人矮小同源盒基因(SHOX基因)的缺失和突變是兒童Leri-Weill綜閤徵、Turner綜閤徵及特髮性身材矮小和其他具有矮小錶型疾病的分子遺傳學基礎,SHOX基因缺陷的臨床錶型具有明顯的異質性,早期髮現SHOX基因的缺陷對矮小癥的診斷和治療具有重要的參攷價值和指導意義.
인동신재왜소시인과내분비상견병,현이증실인왜소동원합기인(SHOX기인)적결실화돌변시인동Leri-Weill종합정、Turner종합정급특발성신재왜소화기타구유왜소표형질병적분자유전학기출,SHOX기인결함적림상표형구유명현적이질성,조기발현SHOX기인적결함대왜소증적진단화치료구유중요적삼고개치화지도의의.
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.
