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

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

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders of dental enamel. X-linked AI results from disease-causing variants in the <i>AMELX</i> gene. In this paper, we characterise the genetic aetiology and enamel histology of female AI patients from two unrelated fami...

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Bibliographic Details
Main Authors: Tina Leban, Katarina Trebušak Podkrajšek, Jernej Kovač, Aleš Fidler, Alenka Pavlič
Format: Article
Language:English
Published: MDPI AG 2022-07-01
Series:Genes
Subjects:
dental enamel
amelogenesis imperfecta
X-linked
exome analysis
intron variant
ultrastructure
Online Access:https://www.mdpi.com/2073-4425/13/7/1272

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