Article
Novel FAM20A mutations in hypoplastic amelogenesis imperfecta.
Human mutation - 1 Jan 2012
Cho Sang Hyun, Seymen Figen, Lee Kyung-Eun, Lee Sook-Kyung, Kweon Young-Sun, Kim Kyung Jin, Jung Seung-Eun, Song Su Jeong, Yildirim Mine, Bayram Merve, Tuna Elif Bahar, Gencay Koray, Kim Jung-Wook
Abstract excerpt
Amelogenesis imperfecta (AI) is a genetically and clinically heterogeneous group of inherited dental enamel defects without any other nonoral symptoms. Recently, a disease-causing nonsense mutation (c.406C>T) in a novel gene, FAM20A, was identified in a large consanguineous family affected by AI with gingival hyperplasia. We performed mutational analyses on nine AI families with similar phenotypes and identified...
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