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Yang, C. Amelogenesis Imperfecta. Encyclopedia. Available online: https://encyclopedia.pub/entry/4714 (accessed on 26 September 2026).
Yang C. Amelogenesis Imperfecta. Encyclopedia. Available at: https://encyclopedia.pub/entry/4714. Accessed September 26, 2026.
Yang, Catherine. "Amelogenesis Imperfecta" Encyclopedia, https://encyclopedia.pub/entry/4714 (accessed September 26, 2026).
Yang, C. (2020, December 24). Amelogenesis Imperfecta. In Encyclopedia. https://encyclopedia.pub/entry/4714
Yang, Catherine. "Amelogenesis Imperfecta." Encyclopedia. Web. 24 December, 2020.
Amelogenesis Imperfecta
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/amelogenesis-imperfecta

Amelogenesis imperfecta is a disorder of tooth development. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. Other dental abnormalities are also possible. These defects, which vary among affected individuals, can affect both primary (baby) teeth and permanent (adult) teeth.

genetic conditions

References

  1. Aldred MJ, Savarirayan R, Crawford PJ. Amelogenesis imperfecta: aclassification and catalogue for the 21st century. Oral Dis. 2003 Jan;9(1):19-23.Review.
  2. Chan HC, Estrella NM, Milkovich RN, Kim JW, Simmer JP, Hu JC. Target geneanalyses of 39 amelogenesis imperfecta kindreds. Eur J Oral Sci. 2011 Dec;119Suppl 1:311-23. doi: 10.1111/j.1600-0722.2011.00857.x.
  3. Gasse B, Karayigit E, Mathieu E, Jung S, Garret A, Huckert M, Morkmued S,Schneider C, Vidal L, Hemmerlé J, Sire JY, Bloch-Zupan A. Homozygous and compoundheterozygous MMP20 mutations in amelogenesis imperfecta. J Dent Res. 2013Jul;92(7):598-603. doi: 10.1177/0022034513488393.
  4. Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, FiratliS, Aren G, Firatli E. Novel ENAM mutation responsible for autosomal recessiveamelogenesis imperfecta and localised enamel defects. J Med Genet. 2003Dec;40(12):900-6.
  5. Hu JC, Chan HC, Simmer SG, Seymen F, Richardson AS, Hu Y, Milkovich RN,Estrella NM, Yildirim M, Bayram M, Chen CF, Simmer JP. Amelogenesis imperfecta intwo families with defined AMELX deletions in ARHGAP6. PLoS One.2012;7(12):e52052. doi: 10.1371/journal.pone.0052052.
  6. Kim JW, Seymen F, Lin BP, Kiziltan B, Gencay K, Simmer JP, Hu JC. ENAMmutations in autosomal-dominant amelogenesis imperfecta. J Dent Res. 2005Mar;84(3):278-82.
  7. Kim JW, Simmer JP, Hu YY, Lin BP, Boyd C, Wright JT, Yamada CJ, Rayes SK,Feigal RJ, Hu JC. Amelogenin p.M1T and p.W4S mutations underlying hypoplasticX-linked amelogenesis imperfecta. J Dent Res. 2004 May;83(5):378-83.
  8. Lee SK, Lee KE, Jeong TS, Hwang YH, Kim S, Hu JC, Simmer JP, Kim JW. FAM83Hmutations cause ADHCAI and alter intracellular protein localization. J Dent Res. 2011 Mar;90(3):377-81. doi: 10.1177/0022034510389177.
  9. Nusier M, Yassin O, Hart TC, Samimi A, Wright JT. Phenotypic diversity andrevision of the nomenclature for autosomal recessive amelogenesis imperfecta.Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2004 Feb;97(2):220-30.
  10. Wright JT, Torain M, Long K, Seow K, Crawford P, Aldred MJ, Hart PS, Hart TC. Amelogenesis imperfecta: genotype-phenotype studies in 71 families. Cells TissuesOrgans. 2011;194(2-4):279-83. doi: 10.1159/000324339.
  11. Wright JT. The molecular etiologies and associated phenotypes of amelogenesis imperfecta. Am J Med Genet A. 2006 Dec 1;140(23):2547-55. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
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Entry Collection: MedlinePlus
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Update Date: 24 Dec 2020
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