Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

Amelogenesis imperfecta

Amelogenesis imperfecta (AI) is a group of congenital disorders, involving the abnormal formation of tooth enamel, the external layer of the crown of teeth.

FAM20A

FAM20A is a protein that in humans is encoded by the FAM20A gene.