Periodontal disease and FAM20A mutations.

Abstract excerpt

Enamel-renal-gingival syndrome (ERGS; OMIM #204690), a rare autosomal recessive disorder caused by mutations in FAM20A, is characterized by nephrocalcinosis, nephrolithiasis, amelogenesis imperfecta, hypoplastic type, gingival fibromatosis and other dental abnormalities, including hypodontia and unerupted teeth with large dental follicles. We report three patients and their families with findings suggestive of...

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• Bone and Dental Protein Studies
• Child
• Child, Preschool
• Dental Enamel Proteins
• Models, Molecular