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Article

The molecular etiologies and associated phenotypes of amelogenesis imperfecta.

American journal of medical genetics. Part A - 1 Dec 2006

Wright J Timothy

Abstract excerpt

The amelogenesis imperfectas (AIs) are a clinically and genetically diverse group of conditions that are caused by mutations in a variety of genes that are critical for normal enamel formation. To date, mutations have been identified in four genes (AMELX, ENAM, KLK4, MMP20) known to be involved in enamel formation. Additional yet to be identified genes also are implicated in the etiology of AI based on linkage...

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Source

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Identifiers

PMID: 16838342
DOI: 10.1002/ajmg.a.31358
PMCID: PMC1847600

Genes

AMELX
ENAM
KLK4
MMP20

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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