Now showing items 1-1 of 1

    • 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 ...