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Article

An intronic variant in LAMB3 contributes to junctional epidermolysis bullosa and enamel hypoplasia via translational attenuation.

Archives of oral biology - 1 Jan 2025

Yang Yi, Wang Yao, Qin Man, Zhao Yuming, Has Cristina, Wang Xin

Abstract excerpt

OBJECTIVES: This study aimed to investigate the genetic etiology of a family affected by junctional epidermolysis bullosa (JEB) and generalized enamel hypoplasia, and to explore how an intronic variant influenced the 5' untranslated region (5'UTR), thereby affecting LAMB3 expression and contributing to the pathogenesis of the disease. DESIGN: Whole-exome and whole-genome sequencing were used to screen for genetic...

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PMID: 39357391
DOI: 10.1016/j.archoralbio.2024.106101

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