• A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing 

      Poulter, James A.; Smith, Claire E. L.; Murillo Knudsen, Gina; Silva de la Fuente, Sandra Maria; Feather, Sally; Howell Ramírez, Marianella; Crinnion, Laura; Bonthron, David; Carr, Ian M.; Watson, Christopher M.; Inglehearn, Chris F.; Mighell, Alan J. (2015-10-04)
      Biallelic FAM20A mutations cause two conditions where Amelogenesis Imperfecta (AI) is the presenting feature: Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome; and Enamel Renal Syndrome. A distinctive oral phenotype ...
    • Deletion of amelotin exons 3–6 is associated with amelogenesis imperfecta 

      Smith, Claire E. L.; Murillo Knudsen, Gina; Brookes, Steven J.; Poulter, James A.; Silva de la Fuente, Sandra Maria; Kirkham, Jennifer; Inglehearn, Chris F.; Mighell, Alan J. (2016-07-12)
      Amelogenesis imperfecta (AI) is a heterogeneous group of genetic conditions that result in defective dental enamel formation. Amelotin (AMTN) is a secreted protein thought to act as a promoter of matrix mineralization in ...