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Article

Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG.

Archives of oral biology - 1 Mar 2007

Pavlic Alenka, Petelin Milan, Battelino Tadej

Abstract excerpt

OBJECTIVE: The main clinical manifestations of amelogenesis imperfecta (AI) include alteration in the quality and quantity of enamel. AI is associated with different mutations in four genes: enamelin (ENAM), amelogenin (AMGX), kallikrein (KLK4) and enamelysin (MMP-20). Seven different mutations have been identified in the enamelin gene (ENAM). DESIGN: In this paper, we describe the phenotype and ultrastructure of...

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Source

Identifiers

PMID: 17125728
DOI: 10.1016/j.archoralbio.2006.10.010

Genes

ENAM
KLK4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Phenotype and enamel ultrastructure characteristics in patients with ENAM gene mutations g.13185-13186insAG and 8344delG.PMID 17125728Read ↗

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Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.Semantic proximity Read ↗

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