Phenotypic variability in LAMA3-associated amelogenesis imperfecta
Journal
Oral diseases
Date Issued
2023-01-03
Author(s)
Abstract
Amelogenesis imperfecta (AI) is defined as inherited enamel malformations. LAMA3 (laminin alpha-3) encodes a critical protein component of the basement membrane (laminin-332). Individuals carrying heterozygous LAMA3 mutations have previously been shown to have localized enamel defects. This study aimed to define clinical phenotypes and to discern the genetic etiology for four AI kindreds.
Subjects
MMP20; computed tomography; dental enamel; junctional epidermolysis bullosa; laminin; mutation
SDGs
Publisher
WILEY
Type
journal article