A Fourth Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities.

"Amelogenesis imperfecta" (AI) describes a group of genetic conditions that result in defects in tooth enamel formation. Mutations in many genes are known to cause AI, including the gene encoding the serine protease, kallikrein related peptidase 4 (), expressed during the maturation stage of amelogenesis. In this study we report the fourth mutation to be identified in autosomal recessively-inherited hypomaturation type AI, c.