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Article

Novel ITGB6 Mutations Causing Amelogenesis Imperfecta.

Genes - 8 Apr 2026

Yin Hyemin, Jang Soojin, Kim Hyuntae, Simmer James P, Hu Jan C-C, Kim Jung-Wook

Abstract excerpt

BACKGROUND/OBJECTIVES: Amelogenesis imperfecta (AI) is a heterogeneous group of rare hereditary conditions mainly affecting the quantity and/or quality of tooth enamel. Its phenotypic expression is diverse, as is the mutational spectrum of the AI-causing genes and mutations. Integrins are cell-surface receptors that mediate adhesion between cells and between cells and the extracellular matrix. Among these,...

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Identifiers

PMID: 42074549
DOI: 10.3390/genes17040431
PMCID: PMC13115778

Genes

ITGB6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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