Article
Expanding the phenotype of hypomaturation amelogenesis imperfecta due to a novel SLC24A4 variant.
Clinical oral investigations - 1 Oct 2020
Lepperdinger Ulrike, Maurer Elisabeth, Witsch-Baumgartner Martina, Stigler Robert, Zschocke Johannes, Lussi Adrian, Kapferer-Seebacher Ines
Abstract excerpt
OBJECTIVES: Biallelic variants in solute carrier family 24 member 4 (SLC24A4) have been previously reported to cause non-syndromic autosomal recessive amelogenesis imperfecta (AI) of the pigmented hypomaturation type (MIM #615887). We here describe a novel variant in SLC24A4 causing mild enamel hypomaturation defects also in heterozygous individuals. MATERIALS AND METHODS: In the present pedigree analysis, a...
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