Isolated dentinogenesis imperfecta with glass-like enamel caused by COL1A2 mutation

Am J Med Genet A. 2018 Dec;176(12):2919-2923. doi: 10.1002/ajmg.a.40501. Epub 2018 Aug 27.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Collagen Type I / chemistry
  • Collagen Type I / genetics*
  • Dental Enamel / pathology*
  • Dentinogenesis Imperfecta / diagnosis*
  • Dentinogenesis Imperfecta / genetics*
  • Female
  • Humans
  • Male
  • Models, Molecular
  • Mutation*
  • Pedigree
  • Protein Conformation
  • Radiography
  • Structure-Activity Relationship

Substances

  • COL1A2 protein, human
  • Collagen Type I