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WES identified an understood nonsense mutation (c.1915A T) in exon 5 for the FAM83H gene, causing a truncated protein (p.Lys639*). Nonetheless, the cases reported herein exhibited significant variations in the clinical phenotype weighed against that the previously reported instance. An abnormal enamel rod head framework was noticed in affected teeth. In vitro practical studies revealed modified necessary protein localization and a decreased protein degradation pr
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