Ontology highlight
ABSTRACT:
SUBMITTER: Kim JW
PROVIDER: S-EPMC2427219 | biostudies-literature | 2008 Feb
REPOSITORIES: biostudies-literature
Kim Jung-Wook JW Lee Sook-Kyung SK Lee Zang Hee ZH Park Joo-Cheol JC Lee Kyung-Eun KE Lee Myoung-Hwa MH Park Jong-Tae JT Seo Byoung-Moo BM Hu Jan C-C JC Simmer James P JP
American journal of human genetics 20080201 2
Amelogenesis imperfecta (AI) is a collection of diverse inherited disorders featuring dental-enamel defects in the absence of significant nondental symptoms. AI phenotypes vary and are categorized as hypoplastic, hypocalcified, and hypomaturation types. Phenotypic specificity to enamel has focused research on genes encoding enamel-matrix proteins. We studied two families with autosomal-dominant hypocalcified AI and have identified nonsense mutations (R325X and Q398X) in the FAM83H gene on chromo ...[more]