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Article

Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.

Journal of dental research - 1 Aug 2018

Koruyucu M, Kang J, Kim Y J, Seymen F, Kasimoglu Y, Lee Z H, Shin T J, Hyun H K, Kim Y J, Lee S H, Hu J C C, Simmer J P, Kim J W

Abstract excerpt

Tooth enamel, the hardest tissue in the human body, is formed after a complex series of interactions between dental epithelial tissue and the underlying ectomesenchyme. Nonsyndromic amelogenesis imperfecta (AI) is a rare genetic disorder affecting tooth enamel without other nonoral symptoms. In this study, we identified 2 novel ENAM mutations in 2 families with hypoplastic AI by whole exome sequencing. Family 1...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29554435
DOI: 10.1177/0022034518763152
PMCID: PMC6055254

Genes

ENAM

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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