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Article

ENAM mutations in autosomal-dominant amelogenesis imperfecta.

Journal of dental research - 1 Mar 2005

Kim J-W, Seymen F, Lin B P-J, Kiziltan B, Gencay K, Simmer J P, Hu J C-C

Abstract excerpt

To date, 4 unique enamelin gene (ENAM) defects have been identified in kindreds with amelogenesis imperfecta. To improve our understanding of the roles of enamelin in normal enamel formation, and to gain information related to possible genotype/phenotype correlations, we have identified 2 ENAM mu...

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Source

Identifiers

PMID: 15723871
DOI: 10.1177/154405910508400314

Genes

ENAM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-15723871-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

ENAM mutations in autosomal-dominant amelogenesis imperfecta.PMID 15723871Read ↗

A novel ENAM mutation causes hypoplastic amelogenesis imperfecta.Semantic proximity Read ↗

Identification of the enamelin (g.8344delG) mutation in a new kindred and presentation of a standardized ENAM nomenclature.Semantic proximity Read ↗

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

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

Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disordersSemantic proximity Read ↗

Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes.Semantic proximity Read ↗

The molecular etiologies and associated phenotypes of amelogenesis imperfecta.Semantic proximity Read ↗

ENAM mutations with incomplete penetrance.Semantic proximity Read ↗

Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.Semantic proximity Read ↗

ENAM Mutations Can Cause Hypomaturation Amelogenesis Imperfecta.Semantic proximity Read ↗

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.Semantic proximity Read ↗

Phenotype of ENAM mutations is dosage-dependent.Semantic proximity Read ↗

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