Autosomal dominant amelogenesis imperfecta associated with ENAM frameshift mutation p.Asn36Ilefs56

Clin Genet. 2013 Feb;83(2):195-7. doi: 10.1111/j.1399-0004.2012.01887.x. Epub 2012 Apr 29.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Amelogenesis Imperfecta / genetics*
  • Amelogenesis Imperfecta / pathology
  • Amino Acid Sequence
  • Child
  • Exons / genetics
  • Extracellular Matrix Proteins
  • Female
  • Frameshift Mutation*
  • Genetic Association Studies
  • Humans
  • Male
  • Molecular Sequence Data
  • Pedigree
  • Proteins / genetics*

Substances

  • ENAM protein, human
  • Extracellular Matrix Proteins
  • Proteins