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It can occur isolatedly or as part of a syndrome. Previous reports have mainly clarified the types and mechanisms of nonsyndromic AI. This review aimed to compare the phenotypic differences among the hereditary enamel defects with or without syndromes and their underlying pathogenic genes. We searched the articles in PubMed with different strategies or keywords including but not limited to amelogenesis imperfecta, enamel defects, hypoplastic\/hypomaturation\/hypocalcified, syndrome, or specific syndrome name. The articles with detailed clinical information about the enamel and other phenotypes and clear genetic background were used for the analysis. We totally summarized and compared enamel phenotypes of 18 nonsyndromic AI with 17 causative genes and 19 syndromic AI with 26 causative genes. According to the clinical features, radiographic or ultrastructural changes in enamel, the enamel defects were basically divided into hypoplastic and hypomineralized (hypomaturated and hypocalcified) and presented a higher heterogeneity which were closely related to the involved pathogenic genes, types of mutation, hereditary pattern, X chromosome inactivation, incomplete penetrance, and other mechanisms.The gene\u2010specific enamel phenotypes could be an important indicator for diagnosing nonsyndromic and syndromic AI.<\/jats:p>","DOI":"10.1111\/odi.14599","type":"journal-article","created":{"date-parts":[[2023,5,8]],"date-time":"2023-05-08T06:54:59Z","timestamp":1683528899000},"page":"2334-2365","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["Molecular\u2010based phenotype variations in amelogenesis imperfecta"],"prefix":"10.1111","volume":"29","author":[{"given":"Jing","family":"Dong","sequence":"first","affiliation":[{"name":"State Key Laboratory of Military Stomatology, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology &amp; Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, National Clinical Research Center for Oral Disease The Fourth Military Medical University  Xi'an China"},{"name":"College of Life Sciences Northwest University  Xi'an China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3452-3005","authenticated-orcid":false,"given":"Wenyan","family":"Ruan","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Military Stomatology, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology &amp; Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, National Clinical Research Center for Oral Disease The Fourth Military Medical University  Xi'an China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6747-1734","authenticated-orcid":false,"given":"Xiaohong","family":"Duan","sequence":"additional","affiliation":[{"name":"State Key Laboratory of Military Stomatology, Shaanxi Key Laboratory of Stomatology, Department of Oral Biology &amp; Clinic of Oral Rare Diseases and Genetic Diseases, School of Stomatology, National Clinical Research Center for Oral Disease The Fourth Military Medical University  Xi'an China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,5,8]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2411"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.3109\/15419069409004431"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0394\u2010299"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood\u20102011\u201004\u2010325225"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biochi.2004.12.009"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2018.00750"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0888\u20107543(05)80153\u20103"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1601\u20100825.2003.00843.x"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.3390\/children9030362"},{"key":"e_1_2_12_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12895\u2010018\u20100069\u2010x"},{"key":"e_1_2_12_12_1","doi-asserted-by":"publisher","DOI":"10.1177\/154405910208100712"},{"key":"e_1_2_12_13_1","doi-asserted-by":"publisher","DOI":"10.2353\/ajpath.2009.080573"},{"key":"e_1_2_12_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fphys.2014.00510"},{"key":"e_1_2_12_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600\u20100528.1986.tb01493.x"},{"issue":"12","key":"e_1_2_12_16_1","first-page":"2509","article-title":"Stimulation of c\u2010Jun activity by CBP: c\u2010Jun residues Ser63\/73 are required for CBP induced stimulation in vivo and CBP binding in vitro","volume":"11","author":"Bannister A. 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