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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease taurodontism
Comorbidity C0002452|amelogenesis imperfecta
Sentences 3
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).
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- 24992867 Hypomaturation/hypoplastic amelogenesis imperfecta with taurodontism is a rare variant of amelogenesis imperfecta which is often confused with trichodentoosseous syndrome.

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