title: Dental management of amelogenesis imperfecta patients: a primer on genotype-phenotype correlations.
abstract: Amelogenesis imperfecta (AI) represents a group of hereditary conditions which affects enamel formation in the primary and permanent dentitions. Mutations in genes critical for amelogenesis result in diverse phenotypes characterized by variably thin and/or defective enamel. To date, mutations in 5 genes are known to cause AI in humans. Understanding the molecular etiologies and associated inheritance patterns can assist in the early diagnosis of this condition. Recognition of genotype-phenotype correlations will allow clinicians to guide genetic testing and select appropriate management strategies for patients who express different phenotypes. The purpose of this paper was to provide a narrative review of the current literature on amelogenesis imperfecta, particularly regarding recent advances in the identification of candidate genes and the patterns of inheritance.
authors.affiliation: University of Melbourne, Victoria, Australia.
authors.forename: F K
authors.initials: FK
authors.lastname: Ng
authors.forename: L B
authors.initials: LB
authors.lastname: Messer