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A Recurrent FAM83H Mutation in an Extended Colombian Family and Variable Craniofacial Phenotypes

4 Mar 2022

Abstract excerpt

Amelogenesis imperfecta (AI) is a collection of rare genetic disorders affecting the quantity and/or quality of the tooth enamel. AI can be classified into three major types according to the clinical phenotype: hypoplastic, hypocalcified, and hypomatured. Among them, the hypocalcified type shows the weakest physical properties, leaving rough and discolored enamel surfaces after tooth eruption. To date, mutations...

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PMID: 35327733
DOI: 10.3390/children9030362

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A Recurrent FAM83H Mutation in an Extended Colombian Family and Variable Craniofacial PhenotypesPMID 35327733Read ↗

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Limited phenotypic variation of hypocalcified amelogenesis imperfecta in a Danish five-generation family with a novel FAM83H nonsense mutation.Semantic proximity Read ↗

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