Article
Phenotypic variability in LAMA3-associated amelogenesis imperfecta.
Oral diseases - 1 Nov 2023
Wang Shih-Kai, Zhang Hong, Wang Yin-Lin, Seymen Figen, Koruyucu Mine, Simmer James P, Hu Jan C-C
Abstract excerpt
OBJECTIVE: 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. MATERIALS AND...
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