title: Autosomal dominant amelogenesis imperfecta associated with ENAM frameshift mutation p.Asn36Ilefs56.
authors.forename: S G
authors.initials: SG
authors.lastname: Simmer
authors.forename: N M R P
authors.initials: NM
authors.lastname: Estrella
authors.forename: R N
authors.initials: RN
authors.lastname: Milkovich
authors.forename: J C C
authors.initials: JC
authors.lastname: Hu
mesh_terms: D000328:Adult; D000567:Amelogenesis Imperfecta / Q000235:genetics* / Q000473:pathology; D000595:Amino Acid Sequence; D002648:Child; D005091:Exons / Q000235:genetics; D016326:Extracellular Matrix Proteins; D005260:Female; D016368:Frameshift Mutation; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D011506:Proteins / Q000235:genetics*
chemical_list: C550525:ENAM protein, human; D016326:Extracellular Matrix Proteins; D011506:Proteins