中国实用儿科杂志

中国实用儿科杂志 ›› 2023, Vol. 38 ›› Issue (11): 818-822.DOI: 10.19538/j.ek2023110603

• 专题笔谈 • 上一篇    下一篇

儿童特发性矮身材的遗传学机制进展

  

  1. 华中科技大学同济医学院附属同济医院儿科，湖北  武汉  430030
  • 出版日期:2023-11-06 发布日期:2023-11-02
  • 通讯作者: 梁雁，电子信箱：liangyan2010@sina.com
  • 基金资助:
    国家重点研发计划重点专项（2021YFC2701002）；湖北省科技重大专项（ZDZX2020000020）

Advances in the genetics of idiopathic short stature in children

  1. Department of Pediatrics，Tongji Hospital Affiliated to Tongji Medical College，Huazhong University of Science and Technology，Wuhan  430030，China
  • Online:2023-11-06 Published:2023-11-02

摘要： 特发性矮身材是一组尚未明确病因，具有高度异质性的儿童身材矮小的统称。随分子诊断技术的发展，越来越多的特发性矮身材因内在遗传病因明确而脱离特发性矮身材的诊断。了解特发性矮身材的遗传学机制进展，有助于开拓临床医生的诊疗思路。

关键词: 特发性矮身材, 基因突变, 儿童

Abstract: Idiopathic short stature is a diagnosis for a group of highly heterogeneous short stature in children with unclear etiology. With the progress of molecular diagnostic technology，more and more idiopathic short stature are excluded due to the identification of genetic causes. Understanding the genetic mechanism of idiopathic short stature is helpful to the diagnosis and treatment in clinical practice.

Key words: idiopathic short stature, gene mutation, child