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We report on two unrelated Thai patients with three novel and one previously reported mutations in <jats:italic>FAM20A<\/jats:italic> with findings suggesting both disorders, including hypoplastic AI, gingival fibromatosis, unerupted teeth, aggressive periodontitis, and nephrocalcinosis\/nephrolithiasis. Additional findings consisted of a supernumerary premolar, localized aggressive periodontitis, thin alveolar bone, vitamin D deficiency\u2010associated hyperparathyroidism, and heterotopic calcification in other tissues, including lungs, dental pulp, gingiva, dental follicles, and periodontal tissues, and early cessation of limited menstruation. Greater promotory activity of urine on calcium oxalate crystal growth compared to controls may help to explain the pathogenesis, and suggest that <jats:italic>FAM20A<\/jats:italic> mutations can contribute to nephrocalcinosis\/nephrolithiasis. Our findings expand the phenotypic spectrum of <jats:italic>FAM20A<\/jats:italic> mutations. Since both of our patients and a large number of previously reported cases had all the important features of both syndromes, including AI, renal anomalies, and gingival fibromatosis, we are convinced that these two disorders actually are the same entity. The name of enamel\u2010renal\u2010gingival syndrome is suggested. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36187","type":"journal-article","created":{"date-parts":[[2013,11,21]],"date-time":"2013-11-21T00:37:19Z","timestamp":1384994239000},"page":"1-9","source":"Crossref","is-referenced-by-count":56,"title":["Enamel\u2010renal\u2010gingival syndrome and <i>FAM20A<\/i> mutations"],"prefix":"10.1002","volume":"164","author":[{"given":"Piranit Nik","family":"Kantaputra","sequence":"first","affiliation":[{"name":"Division of Pediatric Dentistry Department of Orthodontics and Pediatric Dentistry, Chiang Mai University Chiang Mai Thailand"},{"name":"Craniofacial Genetics Laboratory Faculty of Dentistry, Chiang Mai University Chiang Mai Thailand"},{"name":"DENTALAND CLINIC Chiang Mai Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massupa","family":"Kaewgahya","sequence":"additional","affiliation":[{"name":"Craniofacial 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