[1]. C J Witkop Jr, et al. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification. J Oral Pathol. 1988 Nov;17(9-10):547-53.  [Content Brief]

[2]. Claire E L Smith, et al. Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. Hum Mol Genet. 2016 Aug 15;25(16):3578-3587.  [Content Brief]

[3]. David A Parry, et al. Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. Am J Hum Genet. 2013 Feb 7;92(2):307-12.  [Content Brief]

[4]. David A Parry, et al. Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. Am J Hum Genet. 2012 Sep 7;91(3):565-71.  [Content Brief]

[5]. David A Parry, et al. Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. Am J Hum Genet. 2016 Oct 6;99(4):984-990.  [Content Brief]

[6]. Emin Murat Canger, et al. Amelogenesis imperfecta, hypoplastic type associated with some dental abnormalities: a case report. Braz Dent J. 2010;21(2):170-4.  [Content Brief]

[7]. Figen Seymen, et al. Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. Am J Hum Genet. 2016 Nov 3;99(5):1199-1205.  [Content Brief]

[8]. G Stephanopoulos, et al. Genes and related proteins involved in amelogenesis imperfecta. J Dent Res. 2005 Dec;84(12):1117-26.  [Content Brief]

[9]. J W Kim, et al. LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta. J Dent Res. 2013 Oct;92(10):899-904.  [Content Brief]

[10]. James A Poulter, et al. A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta. Hum Mol Genet. 2014 Apr 15;23(8):2189-97.  [Content Brief]

[11]. James A Poulter, et al. Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta. Hum Mol Genet. 2014 Oct 15;23(20):5317-24.  [Content Brief]

[12]. Jung-Wook Kim, et al. FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. Am J Hum Genet. 2008 Feb;82(2):489-94.  [Content Brief]

[13]. Jung-Wook Kim, et al. Mutations in RELT cause autosomal recessive amelogenesis imperfecta. Clin Genet. 2019 Mar;95(3):375-383.  [Content Brief]

[14]. Peter J M Crawford, et al. Amelogenesis imperfecta. Orphanet J Rare Dis. 2007 Apr 4;2:17.  [Content Brief]

[15]. Sang Hyun Cho, et al. Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. Hum Mutat. 2012 Jan;33(1):91-4.  [Content Brief]

[16]. Walid El-Sayed, et al. Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. Am J Hum Genet. 2009 Nov;85(5):699-705.  [Content Brief]