[A case report of tooth agenesis, multiple dens invaginatus and taurodontism]

Zhonghua Kou Qiang Yi Xue Za Zhi. 2023 Aug 9;58(8):834-839. doi: 10.3760/cma.j.cn112144-20230423-00170.
[Article in Chinese]

Abstract

本文报道1例以先天缺牙、多发性牙内陷、牛牙症为临床表现的患者，采用全外显子组测序技术对先证者及其母亲进行致病基因鉴定，Sanger测序技术证实先证者携带外胚层发育不良A（ectodysplasin A receptor，EDAR）基因的错义突变p.Val402Ala/c.1205T>C，家系鉴定该杂合突变遗传自母亲。对先证者行牙内陷患牙治疗，并讨论EDAR基因突变在牙齿形态及数目发育异常中的致病作用。.

Publication types

  • Case Reports

MeSH terms

  • Dens in Dente* / complications
  • Dens in Dente* / diagnostic imaging
  • Dental Pulp Cavity
  • Humans
  • Tooth Abnormalities*
  • Tooth Diseases*

Supplementary concepts

  • Taurodontism