eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | taurodontism |
| Symptom | C0002452|amelogenesis imperfecta |
| Sentences | 3 |
| PubMedID- 24992867 | Hypomaturation/hypoplastic amelogenesis imperfecta with taurodontism is a rare variant of amelogenesis imperfecta which is often confused with trichodentoosseous syndrome. |
| PubMedID- 22969805 | The importance of tdo to dentists is for two reasons; the severe hypoplastic defects of enamel and the difficulty in differentiation from hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism from clinical and radiographic criteria alone, which necessitates further histologic and genetic investigations. |
| PubMedID- 26578979 | A dlx3 mutation has also been reported to account for amelogenesis imperfecta hypoplastic-hypomaturation with taurodontism (aihht; omim#104510; dong et al., 2005), although it has been disputed whether the described condition really constituted aihht or rather tdo with only minor hair and bone involvement (price et al., 1999). |
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