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
The gain-of-function FAM83H mutation caused hypocalcification amelogenesis imperfecta in a Chinese family.
Zheng Y et al.
Clinical Oral Investigations, 2021
FAM83H and Autosomal Dominant Hypocalcified Amelogenesis Imperfecta.
Wang SK et al.
Journal of Dental Research, 2021
Decreased osteogenic activity and mineralization of alveolar bone cells from a patient with amelogenesis imperfecta and FAM83H 1261G>T mutation.
Nowwarote N et al.
Genes & Diseases, 2019
Amelogenesis imperfecta: A novel FAM83H mutation and characteristics of periodontal ligament cells.
Nowwarote N et al.
Oral Diseases, 2018
Fam83h null mice support a neomorphic mechanism for human ADHCAI.
Wang SK et al.
Molecular Genetics & Genomic Medicine, 2016
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