A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia
作者: Wen’an XuQiuyue ChenCuixian LiuJiajing ChenFu XiongBuling Wu
作者单位: 1Southern Medical University
2Department of Stomatology, Zhongshan City People’s Hospital
刊名: BMC Medical Genetics, 2017, Vol.18 (1)
来源数据库: Springer Nature Journal
DOI: 10.1186/s12881-017-0375-x
关键词: Craniofacial anomaliesOral systemic disease(s)RUNX2Molecular geneticsHaploinsufficiencyTruncation protein
原始语种摘要: Haploinsufficiency of the runt-related transcription factor 2 (RUNX2) gene is known to cause cleidocranial dysplasia (CCD). Here, we investigated a complex, heterozygous RUNX2 gene mutation in a Chinese family with CCD and the pathogenesis associated with the variations.
全文获取路径: Springer Nature  (合作)
分享到:
来源刊物:
影响因子:2.536 (2012)

×
关键词翻译
关键词翻译
  • cleidocranial 锁骨头颅的
  • dysplasia 发育异常
  • complex 超群
  • protein 蛋白质
  • mutation 变种
  • causes 白内障的原因
  • associated 相关的
  • heterozygous 杂合的
  • genetics 遗传学
  • systemic 系统的