An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature

doi:10.3390/genes13071272

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Article

An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature

Genes - 18 Jul 2022

Leban Tina, Trebušak Podkrajšek Katarina, Kovač Jernej, Fidler Aleš, Pavlič Alenka

Abstract excerpt

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders of dental enamel. X-linked AI results from disease-causing variants in the AMELX gene. In this paper, we characterise the genetic aetiology and enamel histology of female AI patients from two unrelated families with similar clinical and radiographic findings. All three probands were carefully selected from 40 patients with AI. In probands...

Topics

Amelogenesis Imperfecta
Amelogenin
Exons
Female
Humans
Infant, Newborn
Introns
Mutation
Proteins

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Identifiers

PMID: 35886055
DOI: 10.3390/genes13071272
PMCID: PMC9321068

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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