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| {{Infobox medical condition (new) | | {{Infobox medical condition (new) |
| | name = Amelogenesis imperfecta | | | name = Amelogenesis imperfecta |
| | synonyms = | | | synonyms = Hereditary enamel dysplasia |
| | image = B amelogenesis imperfecta.jpg | | | image = B amelogenesis imperfecta.jpg |
| | caption = Amelogenesis imperfecta, hypoplastic type. Note the association of pitted enamel and open bite. | | | caption = Amelogenesis imperfecta, hypoplastic type. Note the association of pitted enamel and open bite. |
| | pronounce = | | | pronounce = |
| | field = | | | field = [[Dentistry]], [[Genetic disorders]] |
| | symptoms = | | | symptoms = [[Enamel hypoplasia]], tooth discoloration, [[tooth sensitivity]], rapid tooth wear, malocclusion |
| | complications = | | | complications = Increased risk of [[dental caries]], tooth fractures, psychosocial impact |
| | onset = | | | onset = [[Congenital]] (present at birth) |
| | duration = | | | duration = Lifelong |
| | types = | | | types = Hypoplastic, hypocalcified, hypomaturation, and mixed types |
| | causes = | | | causes = Mutations in genes such as [[ENAM]], [[AMELX]], [[MMP20]], [[FAM83H]], [[KLK4]] |
| | risks = | | | risks = [[Autosomal dominant]], [[autosomal recessive]], or [[X-linked]] inheritance patterns |
| | diagnosis = | | | diagnosis = Clinical examination, [[family history]], [[genetic testing]], [[radiography]] |
| | differential = | | | differential = [[Dentinogenesis imperfecta]], [[fluorosis]], [[enamel hypoplasia]] due to systemic causes |
| | prevention = | | | prevention = Genetic counseling for affected families |
| | treatment = | | | treatment = [[Restorative dentistry]], [[crowns]], [[veneers]], [[orthodontics]] |
| | medication = | | | medication = Not applicable |
| | prognosis = | | | prognosis = Variable; manageable with dental care |
| | frequency = | | | frequency = Rare (1 in 700 to 1 in 14,000) |
| | deaths = | | | deaths = None (non-lethal condition) |
| }} | | }} |
| '''Amelogenesis imperfecta''' ('''AI''') is a congenital disorder which presents with a rare abnormal formation of the [[Tooth enamel|enamel]]<ref name="Slootweg2007">{{cite book | first = Pieter J. | last = Slootweg | name-list-format = vanc |title=Dental pathology: a practical introduction |url= https://books.google.com/books?id=RZnrjMib-tQC&pg=PA19|access-date=28 December 2010|year=2007|publisher=Springer Science & Business Media|isbn=978-3-540-71690-7|pages=19–}}</ref> or external layer of the crown of [[teeth]], unrelated to any systemic or generalized conditions.<ref>{{cite journal | vauthors = Kida M, Ariga T, Shirakawa T, Oguchi H, Sakiyama Y | title = Autosomal-dominant hypoplastic form of amelogenesis imperfecta caused by an enamelin gene mutation at the exon-intron boundary | journal = Journal of Dental Research | volume = 81 | issue = 11 | pages = 738–42 | date = November 2002 | pmid = 12407086 | doi = 10.1177/154405910208101103 }}</ref> Enamel is composed mostly of mineral, that is formed and regulated by the proteins in it. Amelogenesis imperfecta is due to the malfunction of the proteins in the enamel ([[ameloblastin]], [[Tooth enamel|enamelin]], [[tuftelin]] and [[amelogenin]]) as a result of abnormal enamel formation via [[amelogenesis]].<ref>{{cite journal | vauthors = Smith CE, Murillo G, Brookes SJ, Poulter JA, Silva S, Kirkham J, Inglehearn CF, Mighell AJ | title = Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta | journal = Human Molecular Genetics | volume = 25 | issue = 16 | pages = 3578–3587 | date = August 2016 | pmid = 27412008 | pmc = 5179951 | doi = 10.1093/hmg/ddw203 }}</ref> | | '''Amelogenesis imperfecta''' is a genetic disorder that affects the development of tooth enamel, the hard outer layer of the teeth. This condition results in enamel that is abnormally thin, soft, or improperly formed, leading to teeth that are discolored, sensitive, and prone to damage. |
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| People afflicted with amelogenesis imperfecta may have teeth with abnormal color: yellow, brown or grey; this disorder can afflict any number of teeth of both dentitions. [[Enamel hypoplasia]] manifests in a variety of ways depending on the type of AI an individual has (see below), with pitting and plane-form defects common.<ref>{{cite journal | vauthors = Crawford PJ, Aldred M, Bloch-Zupan A | title = Amelogenesis imperfecta | journal = Orphanet Journal of Rare Diseases | volume = 2 | issue = 1 | pages = 17 | date = April 2007 | pmid = 17408482 | pmc = 1853073 | doi = 10.1186/1750-1172-2-17 }}</ref> The teeth have a higher risk for [[dental cavities]] and are [[Dentin hypersensitivity|hypersensitive to temperature changes]] as well as rapid [[Attrition (dental)|attrition]], excessive [[Calculus (dental)|calculus]] deposition, and [[gingival hyperplasia]].<ref name=":0">American Academy of Pediatric Dentistry, Guideline on Dental Management of Heritable Dental Developmental Anomalies, 2013, http://www.aapd.org/media/Policies_Guidelines/G_OHCHeritable.pdf</ref> The earliest known case of AI is in an extinct [[Hominidae|hominid]] species called ''[[Paranthropus robustus]]'', with over a third of individuals displaying this condition.<ref>{{Cite journal|url=|doi=10.1016/j.jhevol.2019.01.002|pmid=30904040|title=A probable genetic origin for pitting enamel hypoplasia on the molars of Paranthropus robustus|journal=Journal of Human Evolution|volume=129|pages=54–61|year=2019|last1=Towle|first1=Ian|last2=Irish|first2=Joel D.}}</ref>
| | ==Classification== |
| | Amelogenesis imperfecta is classified into several types based on the specific enamel defects and the genetic mutations involved. The main types include: |
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| | * '''Hypoplastic type''': Characterized by insufficient enamel formation, leading to thin enamel. Teeth may appear small and have pits or grooves. |
| | * '''Hypomaturation type''': Enamel is of normal thickness but is softer than normal. Teeth may appear mottled and have a chalky texture. |
| | * '''Hypocalcified type''': Enamel is of normal thickness but poorly mineralized, making it soft and easily worn away. Teeth often appear yellow-brown and are prone to rapid wear. |
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| ==Genetics== | | ==Genetics== |
| Several gene expression is needed for enamel formation where the relevant matrix proteins & proteinases are transcribed for regular crystal growth & enamel mineralization.
| | Amelogenesis imperfecta is caused by mutations in genes that are critical for enamel formation. These genes include: |
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| Mutations in the ''[[AMELX]]'',<ref>{{cite journal | vauthors = Lagerström M, Dahl N, Nakahori Y, Nakagome Y, Bäckman B, Landegren U, Pettersson U | title = A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1) | journal = Genomics | volume = 10 | issue = 4 | pages = 971–5 | date = August 1991 | pmid = 1916828 | doi = 10.1016/0888-7543(91)90187-j }}</ref> ''[[ENAM]]'',<ref>{{cite journal | vauthors = Rajpar MH, Harley K, Laing C, Davies RM, Dixon MJ | title = Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta | journal = Human Molecular Genetics | volume = 10 | issue = 16 | pages = 1673–7 | date = August 2001 | pmid = 11487571 | doi = 10.1093/hmg/10.16.1673 | doi-access = free }}</ref> ''[[MMP20]]'',<ref>{{cite journal | vauthors = Kim JW, Simmer JP, Hart TC, Hart PS, Ramaswami MD, Bartlett JD, Hu JC | title = MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta | journal = Journal of Medical Genetics | volume = 42 | issue = 3 | pages = 271–5 | date = March 2005 | pmid = 15744043 | pmc = 1736010 | doi = 10.1136/jmg.2004.024505 }}</ref> ''[[KLK-4]]'',<ref>{{cite journal | vauthors = Hart PS, Hart TC, Michalec MD, Ryu OH, Simmons D, Hong S, Wright JT | title = Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta | journal = Journal of Medical Genetics | volume = 41 | issue = 7 | pages = 545–9 | date = July 2004 | pmid = 15235027 | pmc = 1735847 | doi = 10.1136/jmg.2003.017657 }}</ref> ''[[FAM83H]]'',<ref>{{cite journal | vauthors = Kim JW, Lee SK, Lee ZH, Park JC, Lee KE, Lee MH, Park JT, Seo BM, Hu JC, Simmer JP | title = FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta | journal = American Journal of Human Genetics | volume = 82 | issue = 2 | pages = 489–94 | date = February 2008 | pmid = 18252228 | pmc = 2427219 | doi = 10.1016/j.ajhg.2007.09.020 }}</ref> ''[[WDR72]]'',<ref>{{cite journal | vauthors = El-Sayed W, Parry DA, Shore RC, Ahmed M, Jafri H, Rashid Y, Al-Bahlani S, Al Harasi S, Kirkham J, Inglehearn CF, Mighell AJ | display-authors = 6 | title = Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta | journal = American Journal of Human Genetics | volume = 85 | issue = 5 | pages = 699–705 | date = November 2009 | pmid = 19853237 | pmc = 2775821 | doi = 10.1016/j.ajhg.2009.09.014 }}</ref> ''[[C4orf26]]'',<ref>{{cite journal | vauthors = Parry DA, Brookes SJ, Logan CV, Poulter JA, El-Sayed W, Al-Bahlani S, Al Harasi S, Sayed J, el Raïf M, Shore RC, Dashash M, Barron M, Morgan JE, Carr IM, Taylor GR, Johnson CA, Aldred MJ, Dixon MJ, Wright JT, Kirkham J, Inglehearn CF, Mighell AJ | title = Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta | journal = American Journal of Human Genetics | volume = 91 | issue = 3 | pages = 565–71 | date = September 2012 | pmid = 22901946 | pmc = 3511980 | doi = 10.1016/j.ajhg.2012.07.020 }}</ref> ''[[SLC24A4]]''<ref>{{cite journal | vauthors = Parry DA, Poulter JA, Logan CV, Brookes SJ, Jafri H, Ferguson CH, Anwari BM, Rashid Y, Zhao H, Johnson CA, Inglehearn CF, Mighell AJ | display-authors = 6 | title = Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta | journal = American Journal of Human Genetics | volume = 92 | issue = 2 | pages = 307–12 | date = February 2013 | pmid = 23375655 | pmc = 3567274 | doi = 10.1016/j.ajhg.2013.01.003 }}</ref><ref>{{cite journal | vauthors = Herzog CR, Reid BM, Seymen F, Koruyucu M, Tuna EB, Simmer JP, Hu JC | title = Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation | journal = Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology | volume = 119 | issue = 2 | pages = e77–81 | date = February 2015 | pmid = 25442250 | pmc = 4291293 | doi = 10.1016/j.oooo.2014.09.003 }}</ref> ''[[LAMB3]]''<ref>{{cite journal | vauthors = Poulter JA, El-Sayed W, Shore RC, Kirkham J, Inglehearn CF, Mighell AJ | title = Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta | journal = European Journal of Human Genetics | volume = 22 | issue = 1 | pages = 132–5 | date = January 2014 | pmid = 23632796 | pmc = 3865405 | doi = 10.1038/ejhg.2013.76 }}</ref> and ''[[ITGB6]]''<ref>{{cite journal | vauthors = Wang SK, Choi M, Richardson AS, Reid BM, Lin BP, Wang SJ, Kim JW, Simmer JP, Hu JC | title = ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta | journal = Human Molecular Genetics | volume = 23 | issue = 8 | pages = 2157–63 | date = April 2014 | pmid = 24305999 | pmc = 3959820 | doi = 10.1093/hmg/ddt611 }}</ref> genes have been found to cause amelogenesis imperfecta (non-syndromic form). ''AMELX'' and ''ENAM'' encode extracellular matrix proteins of the developing [[tooth enamel]] and ''KLK-4'' and ''MMP20'' encode proteases that help degrade organic matter from the enamel matrix during the maturation stage of [[amelogenesis]]. ''SLC24A4'' encodes a calcium transporter that mediates calcium transport to developing [[Tooth enamel|enamel]] during [[tooth development]]. Less is known about the function of other genes implicated in amelogenesis imperfecta.
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| Researchers expect that mutations in further genes are likely to be identified as causes of amelogenesis imperfecta. Types include:
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| {| class="wikitable"
| | * '''[[AMELX]]''': Located on the X chromosome, mutations in this gene can lead to X-linked amelogenesis imperfecta. |
| |-
| | * '''[[ENAM]]''': Mutations in this gene can cause autosomal dominant or recessive forms of the condition. |
| ! Type
| | * '''[[MMP20]]''': This gene is involved in the maturation of enamel, and mutations can lead to enamel defects. |
| ! [[OMIM]]
| | * '''[[KLK4]]''': Mutations in this gene affect the final stages of enamel maturation. |
| ! Gene
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| ! Locus
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| |-
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| | AI1B
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| | {{OMIM2|104500}}
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| | ''[[ENAM]]''
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| | 4q21
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| |-
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| | AI1C
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| | {{OMIM2|204650}}
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| | ''[[ENAM]]''
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| | 4q21
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| |-
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| | AI2A1
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| | {{OMIM2|204700}}
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| | ''[[KLK4]]''
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| | 19q13.4
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| |-
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| | AI2A2
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| | {{OMIM2|612529}}
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| | ''[[MMP20]]''
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| | 11q22.3-q23
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| |-
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| | AI2A3
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| | {{OMIM2|613211}}
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| | ''[[WDR72]]''
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| | 15q21.3
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| |-
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| | AI2A4
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| | {{OMIM2|614832}}
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| | ''[[ODAPH]]''
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| | 4q21.1
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| |-
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| | AI2A5
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| | {{OMIM2|609840}}
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| | ''[[SLC24A4]]''
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| | 14q32.12
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| |-
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| | AI3
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| | {{OMIM2|130900}}
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| | ''[[FAM83H]]''
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| | 8q24.3
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| |-
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| | AIH1
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| | {{OMIM2|301200}}
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| | ''[[AMELX]]''
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| | Xp22.3-p22.1
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| |-
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| | AIGFS
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| | {{OMIM2|614253}}
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| | ''[[FAM20A]]''
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| | 17q24.2
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| |}
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| Amelogenesis imperfecta can have different inheritance patterns depending on the gene that is altered. Mutations in the ENAM gene are the most frequent known cause and are most commonly inherited in an autosomal dominant pattern. This type of inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder.
| | ==Clinical Features== |
| | The clinical presentation of amelogenesis imperfecta can vary widely, but common features include: |
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| Amelogenesis imperfecta is also inherited in an autosomal recessive pattern; this form of the disorder can result from mutations in the ''ENAM'', ''MMP20'', ''KLK4'', ''FAM20A'', ''C4orf26'' or ''SLC24A4'' genes. Autosomal recessive inheritance means two copies of the gene in each cell are altered.
| | * Discolored teeth, often yellow, brown, or gray. |
| | | * Increased tooth sensitivity to temperature changes and mechanical forces. |
| About 5% of amelogenesis imperfecta cases are caused by mutations in the AMELX gene and are inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. In most cases, males with an X-linked form of this condition experience more severe dental abnormalities than affected females. Recent genetic studies suggest that the cause of a significant proportion of amelogenesis imperfecta cases remains to be discovered.{{citation needed|date=June 2016}}
| | * Rapid wear and breakage of teeth due to soft enamel. |
| | * Malocclusion and altered dental occlusion due to enamel defects. |
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| ==Diagnosis== | | ==Diagnosis== |
| AI can be classified according to their clinical appearances:<ref>{{Cite journal| vauthors = Fonseca RB, Sobrinho LC, Neto AJ, Soares da Mota A, Soares CJ |date=2006|title=Enamel hypoplasia or amelogenesis imperfecta – a restorative approach |journal=Brazilian Journal of Oral Sciences|volume=5 | issue = 16 |pages=941–3 }}</ref>
| | Diagnosis of amelogenesis imperfecta is based on clinical examination, family history, and genetic testing. Dental X-rays can help assess the thickness and density of enamel. Genetic testing can identify specific mutations responsible for the condition. |
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| ;Type 1 - Hypoplastic
| | ==Management== |
| :Enamel of abnormal thickness due to malfunction in enamel matrix formation. Enamel is very thin but hard & translucent, and may have random pits & grooves. Condition is of autosomal dominant, autosomal recessive, or x-linked pattern. Enamel differs in appearance from dentine radiographically as normal functional enamel.<ref name=":1">{{cite journal | vauthors = Visram S, McKaig S | title = Amelogenesis imperfecta--clinical presentation and management: a case report | journal = Dental Update | volume = 33 | issue = 10 | pages = 612–4, 616 | date = December 2006 | pmid = 17209536 | doi = 10.12968/denu.2006.33.10.612 }}</ref>
| | Management of amelogenesis imperfecta focuses on protecting the teeth and improving their appearance. Treatment options include: |
| ;Type 2 - Hypomaturation
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| :Enamel has sound thickness, with a pitted appearance. It is less hard compared to normal enamel, and are prone to rapid wear, although not as intense as Type 3 AI. Condition is of autosomal dominant, autosomal recessive, or x-linked pattern. Enamel appears to be comparable to dentine in its radiodensity on radiographs.
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| ;Type 3 - Hypocalcified
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| :Enamel defect due to malfunction of enamel calcification, therefore enamel is of normal thickness but is extremely brittle, with an opaque/chalky presentation. Teeth are prone to staining and rapid wear, exposing dentine. Condition is of autosomal dominant and autosomal recessive pattern. Enamel appears less radioopaque compared to dentine on radiographs.
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| ;Type 4 - Hypomature hypoplastic enamel with taurodontism
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| : Enamel has a variation in appearance, with mixed features from Type 1 and Type 2 AI. All Type 4 AI has taurodontism in common. Condition is of autosomal dominant pattern. Other common features may include an anterior open bite,<ref>{{cite journal | vauthors = Bouvier D, Duprez JP, Bois D | title = Rehabilitation of young patients with amelogenesis imperfecta: a report of two cases | journal = ASDC Journal of Dentistry for Children | volume = 63 | issue = 6 | pages = 443–7 | date = 1996 | pmid = 9017180 }}</ref> [[taurodontism]], sensitivity of teeth.
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| Differential diagnosis would include [[dental fluorosis]], [[Molar Incisor Hypomineralisation|molar-incisor hypomineralization]], chronological disorders of tooth development.<ref>{{cite journal | vauthors = Crawford PJ, Aldred M, Bloch-Zupan A | title = Amelogenesis imperfecta | journal = Orphanet Journal of Rare Diseases | volume = 2 | pages = 17 | date = April 2007 | pmid = 17408482 | doi = 10.1186/1750-1172-2-17 | pmc = 1853073 }}</ref>
| | * Dental crowns and veneers to protect and restore the appearance of affected teeth. |
| | * Bonding agents to strengthen enamel and reduce sensitivity. |
| | * Regular dental check-ups to monitor and manage dental health. |
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| ==Treatment== | | ==Prognosis== |
| [[File:Amelogenesis.jpg|thumb|right|X-ray showing lack of enamel opacity and a pathological loss of enamel in patient with amelogenesis imperfecta]]
| | The prognosis for individuals with amelogenesis imperfecta varies depending on the severity of the condition and the effectiveness of dental management. With appropriate care, individuals can maintain functional and aesthetically pleasing dentition. |
| Preventive and restorative dental care is very important as well as considerations for esthetic issues since the crown are yellow from exposure of dentin due to enamel loss.<ref name=":0" /> The main objectives of treatment is pain relief, preserving patient's remaining dentition, and to treat and preserve the patient's occlusal vertical height.<ref name=":1" />
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| Many factors are to be considered to decide on treatment options such as the classification and severity of AI, the patient's social history, clinical findings etc. There are many classifications of AI but the general management of this condition is similar.
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| Full-coverage crowns are sometimes being used to compensate for the abraded enamel in adults, tackling the sensitivity the patient experiences. Usually stainless steel crowns are used in children which may be replaced by porcelain once they reach adulthood.<ref>Illustrated Dental Embryology, Histology, and Anatomy, Bath-Balogh and Fehrenbach, Elsevier, 2011, page 64</ref> These aid with maintaining occlusal vertical dimension.
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| Aesthetics may be addressed via placement of composite or porcelain veneers, depending on patient factors e.g. age. If the patient has primary or mixed dentition, lab-made composite veneers may be provided temporarily, to be replaced by permanent porcelain veneers once the patient has stabilized permanent dentition. The patient's oral hygiene and diet should be controlled as well as they play a factor in the success of retaining future restorations.
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| In the worst-case scenario, the teeth may have to be extracted and implants or dentures are required. Loss of nerves in the affected teeth may occur.
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| ==Epidemiology==
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| The exact incidence of amelogenesis imperfecta is uncertain. Estimates vary widely, from 1 in 700 people in northern Sweden to 1 in 14,000 people in the United States.<ref>{{cite journal | vauthors = Hoppenreijs TJ, Voorsmit RA, Freihofer HP | title = Open bite deformity in amelogenesis imperfecta. Part 1: An analysis of contributory factors and implications for treatment | journal = Journal of Cranio-Maxillo-Facial Surgery | volume = 26 | issue = 4 | pages = 260–6 | date = August 1998 | pmid = 9777506 | doi = 10.1016/s1010-5182(98)80023-1 }}</ref> The prevalence of amelogenesis imperfecta in non-human animals has not been explored, however its presence has been noted.<ref>{{cite journal | vauthors = Towle I, Irish JD, De Groote I | title = Amelogenesis imperfecta in the dentition of a wild chimpanzee | journal = Journal of Medical Primatology | volume = 47 | issue = 2 | pages = 117–119 | date = April 2018 | pmid = 29112236 | doi = 10.1111/jmp.12323 | url =http://researchonline.ljmu.ac.uk/7572/1/Towle%20et%20al%20Submitted%20Amelogenesis%20imperfecta%20JMP.pdf}}<!-- http://researchonline.ljmu.ac.uk/7572/1/Towle%20et%20al%20Submitted%20Amelogenesis%20imperfecta%20JMP.pdf }}--></ref>
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| This condition is neither caused by nor the equivalent of [[dental fluorosis]]. A manifestation of amelogenesis imperfecta known as "snow capping" is confined to the outer prismless enamel layer. It may superficially resemble dental fluorosis, and indeed "snow capping" may be used as a descriptive term in some incidents of dental fluorosis.<ref>{{cite journal | vauthors = Chaudhary M, Dixit S, Singh A, Kunte S | title = Amelogenesis imperfecta: Report of a case and review of literature | journal = Journal of Oral and Maxillofacial Pathology | volume = 13 | issue = 2 | pages = 70–7 | date = July 2009 | pmid = 21887005 | pmc = 3162864 | doi = 10.4103/0973-029X.57673 }}</ref><ref>{{cite journal | vauthors = Hu JC, Chan HC, Simmer SG, Seymen F, Richardson AS, Hu Y, Milkovich RN, Estrella NM, Yildirim M, Bayram M, Chen CF, Simmer JP | title = Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6 | journal = PLOS ONE | volume = 7 | issue = 12 | pages = e52052 | year = 2012 | pmid = 23251683 | pmc = 3522662 | doi = 10.1371/journal.pone.0052052 | bibcode = 2012PLoSO...752052H }}</ref>
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| == References ==
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| {{Reflist}}
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| == Further reading ==
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| {{refbegin}}
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| * {{cite journal | vauthors = Winter GB, Brook AH | title = Enamel hypoplasia and anomalies of the enamel | journal = Dental Clinics of North America | volume = 19 | issue = 1 | pages = 3–24 | date = January 1975 | pmid = 162891 }}
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| * {{cite journal | vauthors = Simmer JP, Hu JC | title = Dental enamel formation and its impact on clinical dentistry | journal = Journal of Dental Education | volume = 65 | issue = 9 | pages = 896–905 | date = September 2001 | pmid = 11569606 }}
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| * {{cite journal | vauthors = Aldred MJ, Savarirayan R, Crawford PJ | title = Amelogenesis imperfecta: a classification and catalogue for the 21st century | journal = Oral Diseases | volume = 9 | issue = 1 | pages = 19–23 | date = January 2003 | pmid = 12617253 | doi = 10.1034/j.1601-0825.2003.00843.x }}
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| * {{cite journal | vauthors = Nusier M, Yassin O, Hart TC, Samimi A, Wright JT | title = Phenotypic diversity and revision of the nomenclature for autosomal recessive amelogenesis imperfecta | journal = Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics | volume = 97 | issue = 2 | pages = 220–30 | date = February 2004 | pmid = 14970781 | doi = 10.1016/j.tripleo.2003.08.007 }}
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| * {{cite journal | vauthors = Stephanopoulos G, Garefalaki ME, Lyroudia K | title = Genes and related proteins involved in amelogenesis imperfecta | journal = Journal of Dental Research | volume = 84 | issue = 12 | pages = 1117–26 | date = December 2005 | pmid = 16304440 | doi = 10.1177/154405910508401206 | url = https://www.semanticscholar.org/paper/6eae49ab692dd8a70604f64f8929e85bae6d96b2 }}
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| {{refend}}
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| | ==Related pages== |
| | * [[Tooth enamel]] |
| | * [[Genetic disorder]] |
| | * [[Dental restoration]] |
| == External links == | | == External links == |
| {{Medical resources | | {{Medical resources |
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| {{Tooth disease}} | | {{Tooth disease}} |
| {{X-linked disorders}} | | {{X-linked disorders}} |
| | | {{dentistry}} |
| [[Category:Developmental tooth disorders]] | | [[Category:Developmental tooth disorders]] |
| [[Category:Genetic disorders by system]] | | [[Category:Genetic disorders by system]] |
| {{dictionary-stub1}}
| | [[Category:Genetic disorders]] |
| | [[Category:Dental enamel]] |
| | [[Category:Rare diseases]] |
