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Article

ENAM mutations with incomplete penetrance.

Journal of dental research - 1 Oct 2014

Seymen F, Lee K-E, Koruyucu M, Gencay K, Bayram M, Tuna E B, Lee Z H, Kim J-W

Abstract excerpt

Amelogenesis imperfecta (AI) is a genetic disease affecting tooth enamel formation. AI can be an isolated entity or a phenotype of syndromes. To date, more than 10 genes have been associated with various forms of AI. We have identified 2 unrelated Turkish families with hypoplastic AI and performed mutational analysis. Whole-exome sequencing identified 2 novel heterozygous nonsense mutations in the ENAM gene...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25143514
DOI: 10.1177/0022034514548222
PMCID: PMC4293711

Genes

ENAM

Variants

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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