ENAM mutations and digenic inheritance.
Hong ZhangYuanyuan HuFigen SeymenMine KoruyucuYelda KasimogluShih-Kai WangJohn Timothy WrightMichael W HavelChuhua ZhangJung-Wook KimJames P SimmerJan C-C HuPublished in: Molecular genetics & genomic medicine (2019)
Novel ENAM mutations causing AI were identified, raising to 22 the number of ENAM variations known to cause AI. The severity of the enamel phenotype in Enam+/- Ambn+/- double heterozygous mice is caused by composite digenic effects. Digenic inheritance should be explored as a cause of AI in humans.