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Article

Altered enamelin phosphorylation site causes amelogenesis imperfecta.

Journal of dental research - 1 Jul 2010

Chan H-C, Mai L, Oikonomopoulou A, Chan H L, Richardson A S, Wang S-K, Simmer J P, Hu J C-C

Abstract excerpt

Defects in the enamelin gene (ENAM) cause amelogenesis imperfecta (AI). Our objective was to identify the genetic etiology of enamel hypoplasia in a Caucasian proband. Our hypothesis was that ENAM was defective. The proband and his father have an AG insertion (g.13185_13186insAG; p.422FsX448) in ENAM previously identified in AI kindreds from Slovenia and Turkey. The proband, his brother, and his mother have a...

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Share to Amelogenesis Imperfecta
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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: 20439930
DOI: 10.1177/0022034510365662
PMCID: PMC2889023

Genes

ENAM

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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