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Article

Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.

PloS one - 1 Jan 2015

Wang Xin, Zhao Yuming, Yang Yuan, Qin Man

Abstract excerpt

Amelogenesis imperfecta is a group of inherited diseases affecting the quality and quantity of dental enamel. To date, mutations in more than ten genes have been associated with non-syndromic amelogenesis imperfecta (AI). Among these, ENAM and LAMB3 mutations are known to be parts of the etiology of hypoplastic AI in human cases. When both alleles of LAMB3 are defective, it could cause junctional epidermolysis...

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Source

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Identifiers

PMID: 25769099
DOI: 10.1371/journal.pone.0116514
PMCID: PMC4358960

Genes

LAMB3
ENAM

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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