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New missense variants in RELT causing hypomineralised amelogenesis imperfecta

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0 Published in 2020 at "Clinical Genetics"

DOI: 10.1111/cge.13721

Abstract: Amelogenesis imperfecta (AI) is a heterogeneous group of genetic diseases characterised by dental enamel malformation. Pathogenic variants in at least 33 genes cause syndromic or non‐syndromic AI. Recently variants in RELT, encoding an orphan receptor… read more here.

Keywords: new missense; variant; amelogenesis imperfecta; variants relt ... See more keywords