Ontology highlight
ABSTRACT:
SUBMITTER: Lee SK
PROVIDER: S-EPMC2889227 | biostudies-literature | 2008 Aug
REPOSITORIES: biostudies-literature
Lee Sook-Kyung SK Hu Jan C-C JC Bartlett John D JD Lee Kyung-Eun KE Lin Brent P-J BP Simmer James P JP Kim Jung-Wook JW
Human mutation 20080801 8
Dental enamel forms through the concerted activities of specialized extracellular matrix proteins, including amelogenin, enamelin, MMP20, and KLK4. Defects in the genes encoding these proteins cause non-syndromic inherited enamel malformations collectively designated as amelogenesis imperfecta (AI). These genes, however, account for only about a quarter of all AI cases. Recently we identified mutations in FAM83H that caused autosomal dominant hypocalcified amelogenesis imperfecta (ADHCAI). Unlik ...[more]