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Ultrastructural Analyses of Deciduous Teeth Affected by Hypocalcified Amelogenesis Imperfecta from a Family with a Novel Y458X FAM83H Nonsense Mutation

21 Oct 2009

Abstract excerpt

BACKGROUND: Nonsense mutations in FAM83H are a recently described underlying cause of autosomal dominant (AD) hypocalcified amelogenesis imperfecta (AI). OBJECTIVE: This study aims to report a novel c.1374C>A p.Y458X nonsense mutation and describe the associated ultrastructural phenotype of deciduous teeth. METHODS: A family of European origin from the Iberian Peninsula with AD-inherited AI was ascertained....

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PMID: 20160442
DOI: 10.1159/000252801

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