Article
ODAPH (p.Arg77*) Phenotype and Onset of Ameloblast Pathology During Postsecretory Transition Demonstrated by FIB-SEM Analyses of OdaphC41*/C41* Mice.
Calcified tissue international - 3 Jul 2026
Hu Jan C-C, Smith Charles E, Zhang Hong, Hu Yuanyuan, Liang Tian, Wang Shih-Kai, Chu Kuan Yu, Brown Evans H, Simmer James P
Abstract excerpt
Defects in Odontogenesis-Associated Phosphoprotein (ODAPH) cause autosomal recessive non-syndromic amelogenesis imperfecta (AI; OMIM #614832). We present a 14-year-old boy with delayed tooth eruption and generalized soft and yellow enamel. The proband's parents and two siblings were unaffected. Whole exome analyses identified the AI-causing homozygous ODAPH truncation mutation (p.Arg77*) in the proband. Both...
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