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山东大学学报 (医学版) ›› 2023, Vol. 61 ›› Issue (2): 145-148.doi: 10.6040/j.issn.1671-7554.0.2022.0764

• 病例报道 • 上一篇    

KCNJ6基因突变致Keppen-Lubinsky综合征个案报道

孙妍1,刘帆2,宋启君1,李桂梅1,徐潮3,高聆4,赵家军3,5   

  1. 1.山东第一医科大学附属省立医院儿科, 山东 济南 250021;2.北京协和医学院研究生院, 首都儿科研究所, 北京 100020;3.山东第一医科大学附属省立医院内分泌科, 山东 济南 250021;4.山东第一医科大学附属省立医院中心实验室, 山东 济南 250021;5.山东省内分泌代谢性疾病干细胞与基因治疗工程研究中心, 山东 济南 250000
  • 发布日期:2023-02-17
  • 通讯作者: 赵家军. E-mail:jjzhao@sdu.edu.cn
  • 基金资助:
    山东省自然科学基金面上项目(ZR2020MH003);国家自然科学基金(81974124);泰山学者项目专项基金(tsqn20161071)

  • Published:2023-02-17

关键词: Keppen-Lubinsky综合征, KCNJ6基因, 特殊面容, 精神运动发育落后, 脂肪营养不良

中图分类号: 

  • R58
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