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One case report of Meier-Gorlin syndrome caused by CDC45 mutation

  

  • Online:2021-06-06 Published:2021-07-08

CDC45突变引起Meier-Gorlin 综合征1例报告

  

  1. 国家儿童医院中心  首都医科大学附属北京儿童医院内分泌遗传代谢科, 北京  100045

Key words: Meier-Gorlin syndrome, short stature, microtia, absence of patella, CDC45 gene mutation

关键词: Meier-Gorlin综合征, 身材矮小, 小耳畸形, 髌骨缺如, CDC45基因突变