Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta

This study demonstrates for the first time that AMTN mutations cause non-syndromic human AI and explores the human phenotype, comparing it with that of mice with disrupted Amtn function.

Source: Human Molecular Genetics - December 22, 2016 Category: Genetics & Stem Cells Authors: Smith, C. E. L., Murillo, G., Brookes, S. J., Poulter, J. A., Silva, S., Kirkham, J., Inglehearn, C. F., Mighell, A. J. Tags: ARTICLES Source Type: research