Enamel-renal-gingival syndrome and FAM20A mutations.
Chiang Mai, Thailand. In Am J Med Genet A, 2014
The enamel-renal syndrome of amelogenesis imperfecta (AI) and nephrocalcinosis, and the amelogenesis imperfecta-gingival fibromatosis syndrome have both been associated with mutations in FAM20A.
FAM20A mutations can cause enamel-renal syndrome (ERS).
Ann Arbor, United States. In Plos Genet, 2012
Recently, mutations in FAM20A were reported to cause amelogenesis imperfecta and gingival fibromatosis syndrome (AIGFS), which closely resembles ERS except for the renal calcifications.