Amelogenesis imperfecta
Definition:
References:
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[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]
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