{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T01:34:25Z","timestamp":1792460065031,"version":"4.5.0"},"reference-count":39,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2023,2,5]],"date-time":"2023-02-05T00:00:00Z","timestamp":1675555200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002873","name":"Chulalongkorn University","doi-asserted-by":"publisher","award":["DRF66008"],"award-info":[{"award-number":["DRF66008"]}],"id":[{"id":"10.13039\/501100002873","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010724","name":"Health Systems Research Institute","doi-asserted-by":"publisher","award":["65\u2010039"],"award-info":[{"award-number":["65\u2010039"]}],"id":[{"id":"10.13039\/501100010724","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010724","name":"Health Systems Research Institute","doi-asserted-by":"publisher","award":["65\u2010040"],"award-info":[{"award-number":["65\u2010040"]}],"id":[{"id":"10.13039\/501100010724","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010724","name":"Health Systems Research Institute","doi-asserted-by":"publisher","award":["65\u2010242"],"award-info":[{"award-number":["65\u2010242"]}],"id":[{"id":"10.13039\/501100010724","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004704","name":"National Research Council of Thailand","doi-asserted-by":"publisher","award":["N42A650229"],"award-info":[{"award-number":["N42A650229"]}],"id":[{"id":"10.13039\/501100004704","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Oral Diseases"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>To identify etiologic variants and perform deep dental phenotyping in patients with amelogenesis imperfecta (AI).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Three patients of two unrelated families were evaluated. Genetic variants were investigated by exome and Sanger sequencing. An unerupted permanent third molar (AI1) from Patient1 and a deciduous first molar (AI2) from Patient2, along with three tooth\u2010type matched controls for each were characterized.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All three patients harbored biallelic pathogenic variants in <jats:italic>FAM20A<\/jats:italic>, indicating AI1G. Of the four identified variants, one, c.1231C\u2009&gt;\u2009T p.(Arg411Trp), was novel. Patient1 possessed the largest deletion, 7531\u2009bp, ever identified in <jats:italic>FAM20A<\/jats:italic>. In addition to hypoplastic enamel, multiple impacted teeth, intrapulpal calcification, pericoronal radiolucencies, malocclusion, and periodontal infections were found in all three patients, gingival hyperplasia in Patient1 and Patient2, and alveolar bone exostosis in Patient3. Surface roughness was increased in AI1 but decreased in AI2. Decreased enamel mineral density, hardness, and elastic modulus were observed in AI1 enamel and dentin and AI2 dentin, along with decreased phosphorus, increased carbon, and increased calcium\/phosphorus and carbon\/oxygen ratios. Severely collapsed enamel rods and disorganized dentin\u2013enamel junction were observed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We report a novel <jats:italic>FAM20A<\/jats:italic> variant and, for the first time, the defective mineral composition and physical\/mechanical properties of AI1G teeth.<\/jats:p><\/jats:sec>","DOI":"10.1111\/odi.14510","type":"journal-article","created":{"date-parts":[[2023,1,18]],"date-time":"2023-01-18T07:21:23Z","timestamp":1674026483000},"page":"537-550","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Deep dental phenotyping and a novel <i>FAM20A<\/i> variant in patients with amelogenesis imperfecta type IG"],"prefix":"10.1111","volume":"30","author":[{"given":"Kanokwan","family":"Sriwattanapong","sequence":"first","affiliation":[{"name":"Center of Excellence in Genomics and Precision Dentistry, Department of Physiology, Faculty of Dentistry 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