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Article

Fam83h null mice support a neomorphic mechanism for human ADHCAI

21 Sept 2015

Abstract excerpt

Truncation mutations in FAM83H (family with sequence similarity 83, member H) cause autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI), but little is known about FAM83H function and the pathogenesis of ADHCAI. We recruited three ADHCAI families and identified two novel (p.Gln457*; p.Lys639*) and one previously documented (p.Q452*) disease-causing FAM83H mutations. We generated and characterized...

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PMID: 26788537
DOI: 10.1002/mgg3.178

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