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Article

Mutations in RELT cause autosomal recessive amelogenesis imperfecta

3 Dec 2018

Abstract excerpt

Amelogenesis imperfecta (AI) is a collection of isolated (non‐syndromic) inherited diseases affecting dental enamel formation or a clinical phenotype in syndromic conditions. We characterized three consanguineous AI families with generalized irregular hypoplastic enamel with rapid attrition that perfectly segregated with homozygous defects in a novel gene: RELT that is a member of the tumor necrosis factor...

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PMID: 30506946
DOI: 10.1111/cge.13487

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