Associated Papers
Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing.
Kamps R et al.
Molecular Genetics & Genomic Medicine, 2025
An Intron c.103-3T>C Variant of the AMELX Gene Causes Combined Hypomineralized and Hypoplastic Type of Amelogenesis Imperfecta: Case Series and Review of the Literature
Leban T et al.
Genes, 2022
Fam83h null mice support a neomorphic mechanism for human ADHCAI.
Wang SK et al.
Molecular Genetics & Genomic Medicine, 2016
26788537 (PubMed )
Supplement: MGG3-4-046-s001.pdf
Novel missense mutation of the FAM83H gene causes retention of amelogenin and a mild clinical phenotype of hypocalcified enamel.
Urzúa B et al.
Archives of Oral Biology, 2015
Target gene analyses of 39 amelogenesis imperfecta kindreds.
Chan HC et al.
European Journal of Oral Sciences, 2011
Amelogenesis imperfecta: genotype-phenotype studies in 71 families.
Wright JT et al.
Cells, Tissues, Organs, 2011
Phenotypic variation in FAM83H-associated amelogenesis imperfecta.
Wright JT et al.
Journal of Dental Research, 2009
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