Article
Enamel-renal syndrome in 2 patients with a mutation in FAM20 A and atypical hypertrichosis and hearing loss phenotypes.
Oral surgery, oral medicine, oral pathology and oral radiology - 1 Feb 2017
Pêgo Sabina Pena B, Coletta Ricardo D, Dumitriu Simona, Iancu Daniela, Albanyan Saleh, Kleta Robert, Auricchio Maria Teresa, Santos Luis Antônio, Rocha Breno, Martelli-Júnior Hercílio
Abstract excerpt
Enamel-renal syndrome (OMIM #204690) is an uncommon disorder characterized by amelogenesis imperfecta and nephrocalcinosis and is caused by mutations in FAM20 A. We report 2 patients with enamel-renal syndrome who exhibited the typical features of this syndrome and a homozygous nonsense mutation in the FAM20 A gene (c.406 C>T), genetically confirming the diagnosis. They also exhibited 2 undescribed clinical...
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