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Article

Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation.

Nephron - 1 Jan 2018

Koruyucu Mine, Seymen Figen, Gencay Genco, Gencay Koray, Tuna Elif Bahar, Shin Teo Jeon, Hyun Hong-Keun, Kim Young-Jae, Kim Jung-Wook

Abstract excerpt

BACKGROUND/AIMS: Enamel-renal syndrome is characterized by nephrocalcinosis, enamel defects, gingival hyperplasia and eruption failures. It has been recently identified that recessive mutations in the FAM20A gene result in amelogenesis imperfecta (AI)-gingival fibromatosis. The aim of this research to determine whether AI patients with known -FAM20A mutations also have nephrocalcinosis. METHODS: Complete oral and...

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PMID: 29439260
DOI: 10.1159/000486607

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