Article
Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6.
PloS one - 1 Jan 2012
Hu Jan C-C, Chan Hui-Chen, Simmer Stephen G, Seymen Figen, Richardson Amelia S, Hu Yuanyuan, Milkovich Rachel N, Estrella Ninna M R P, Yildirim Mine, Bayram Merve, Chen Chiung-Fen, Simmer James P
Abstract excerpt
Amelogenesis imperfecta (AI) is a group of inherited conditions featuring isolated enamel malformations. About 5% of AI cases show an X-linked pattern of inheritance, which are caused by mutations in AMELX. In humans there are two, non-allelic amelogenin genes: AMELX (Xp22.3) and AMELY (Yp11.2). About 90% of amelogenin expression is from AMELX, which is nested within intron 1 of the gene encoding Rho GTPase...
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