Amelogenesis imperfecta presents with abnormal formation of the enamel or external layer of teeth. Enamel is composed mostly of mineral, that is formed and regulated by the proteins in it. Amelogenesis imperfecta is due to the malfunction of the proteins in the enamel: ameloblastin, enamelin, tuftelin and amelogenin.
People afflicted with amelogenesis imperfecta have teeth with abnormal color: yellow, brown or grey. The teeth have a higher risk for dental cavities and are hypersensitive to temperature
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