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FAM83H and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta

9 Oct 2020

Abstract excerpt

Autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI; OMIM #130900) is a genetic disorder exhibiting severe hardness defects and reduced fracture toughness of dental enamel. While the condition is nonsyndromic, it can be associated with other craniofacial anomalies, such as malocclusions and delayed or failed tooth eruption. Truncation mutations in FAM83H (OMIM *611927) are hitherto the sole cause of...

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PMID: 33034243
DOI: 10.1177/0022034520962731

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Related research

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FAM83H and Autosomal Dominant Hypocalcified Amelogenesis ImperfectaPMID 33034243Read ↗

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Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel.Semantic proximity Read ↗

Novel FAM83H mutations in patients with amelogenesis imperfecta.Semantic proximity Read ↗

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