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Article

Amelogenesis imperfecta: an introduction.

British dental journal - 27 Apr 2012

Gadhia K, McDonald S, Arkutu N, Malik K

Abstract excerpt

Amelogenesis imperfecta (AI) is an inherited disorder that is associated with mutations in five genes (AMEL; ENAM; MMP20; KLK4 and FAM83H) with a wide range of clinical presentations (phenotypes). It affects the structure and appearance of enamel of all teeth, both in the primary and secondary dentition. In this review paper, we look at the epidemiology, classification, aetiology, clinical description and...

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Source

Identifiers

PMID: 22538897
DOI: 10.1038/sj.bdj.2012.314

Genes

ENAM
KLK4
MMP20

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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