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Amelogenesis imperfecta(AI)

MedGen UID:
240
Concept ID:
C0002452
Congenital Abnormality
Synonyms: AI; Congenital enamel hypoplasia
SNOMED CT: Amelogenesis imperfecta (78494001); Congenital enamel hypoplasia (78494001); AI - Amelogenesis imperfecta (78494001)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
X-linked dominant inheritance
MedGen UID:
376232
Concept ID:
C1847879
Finding
Source: Orphanet
A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation.
 
Related genes: AMTN, FAM83H, WDR72, ODAPH, SLC24A4, ACP4, RELT, FAM20A, ENAM, KLK4, MMP20, GPR68, LAMB3, ITGB6, DLX3, AMELX, AMBN
 
HPO: HP:0000705
Monarch Initiative: MONDO:0019507
OMIM® Phenotypic series: PS104500
Orphanet: ORPHA88661

Definition

A developmental dysplasia of the dental enamel. [from HPO]

Term Hierarchy

Follow this link to review classifications for Amelogenesis imperfecta in Orphanet.

Conditions with this feature

Primary hypomagnesemia
MedGen UID:
120640
Concept ID:
C0268448
Disease or Syndrome
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a progressive renal disorder characterized by excessive urinary Ca(2+) and Mg(2+) excretion. There is progressive loss of kidney function, and in about 50% of cases, the need for renal replacement therapy arises as early as the second decade of life (summary by Muller et al., 2006). Amelogenesis imperfecta may also be present in some patients (Bardet et al., 2016). A similar disorder with renal magnesium wasting, renal failure, and nephrocalcinosis (HOMG5; 248190) is caused by mutations in another tight-junction gene, CLDN19 (610036), and is distinguished by the association of severe ocular involvement. For a discussion of phenotypic and genetic heterogeneity of familial hypomagnesemia, see HOMG1 (602014).
Amelogenesis imperfecta - hypoplastic autosomal dominant - local
MedGen UID:
97993
Concept ID:
C0399368
Disease or Syndrome
Amelogenesis imperfecta type IB (AI1B) is an autosomal dominant disorder of tooth enamel biomineralization resulting in enamel hypoplasia (summary by Brookes et al., 2017).
Amelogenesis imperfecta, hypocalcification type
MedGen UID:
140773
Concept ID:
C0399376
Disease or Syndrome
Hypocalcified amelogenesis imperfecta is characterized by enamel of normal thickness on newly erupted and unerupted and unresolved teeth. The enamel is soft and may be lost soon after eruption leaving the crown composed only of dentin. The enamel has a cheesy consistency and can be scraped from the dentin. An anterior open bite has been recorded in over 60% of the cases observed. The hypocalcification type is the most frequent type of enamel dysplasia, occurring in about 1 in 20,000 individuals (Witkop and Sauk, 1976). Large masses of supragingival calculus become deposited on the teeth, and this is frequently associated with severe gingivitis or periodontitis (Winter and Brook, 1975).
Amelocerebrohypohidrotic syndrome
MedGen UID:
98036
Concept ID:
C0406740
Disease or Syndrome
Kohlschutter-Tonz syndrome (KTZS) is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Impaired intellectual development is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life (summary by Schossig et al., 2012 and Mory et al., 2012). See also Kohlschutter-Tonz syndrome-like (KTZSL; 619229), caused by heterozygous mutation in the SATB1 gene (602075) on chromosome 3p23.
Laryngo-onycho-cutaneous syndrome
MedGen UID:
272227
Concept ID:
C1328355
Disease or Syndrome
Junctional epidermolysis bullosa 2C (JEB2C), also known as laryngoonychocutaneous syndrome (LOCS), is an autosomal recessive disorder characterized by skin erosions, nail dystrophy, dental anomalies, and excessive vascular granulation tissue of the conjunctiva and larynx. Onset is characterized by a hoarse cry soon after birth. Beginning in infancy, chronic skin ulcers and conjunctival lesions appear. Patients may die in childhood secondary to acute or chronic respiratory obstruction. Long-term survivors have visual loss and often require tracheostomy (McLean et al., 2003). For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650). Reviews Has et al. (2020) reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa.
Brachyolmia-amelogenesis imperfecta syndrome
MedGen UID:
318659
Concept ID:
C1832594
Disease or Syndrome
Dental anomalies and short stature (DASS) is characterized by significant short stature with brachyolmia as well as hypoplastic amelogenesis imperfecta with almost absent enamel (Huckert et al., 2015). Some patients exhibit valvular and/or vascular defects, including mitral valve prolapse, aortic root dilation, and aortic as well as other arterial aneurysms (Dugan et al., 2015; Guo et al., 2018). Inter- and intrafamilial variability has been reported.
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2
MedGen UID:
336845
Concept ID:
C1845051
Disease or Syndrome
An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region.
Amelogenesis imperfecta type 1E
MedGen UID:
336847
Concept ID:
C1845053
Disease or Syndrome
Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms (Witkop, 1988).
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
MedGen UID:
350816
Concept ID:
C1863012
Disease or Syndrome
Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene.
Amelogenesis imperfecta type 2A1
MedGen UID:
436039
Concept ID:
C2673922
Disease or Syndrome
Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1989). Genetic Heterogeneity of the Hypomaturation Type of Amelogenesis Imperfecta See also AI2A2 (612529), caused by mutation in the MMP20 gene (604629); AI2A3 (613211), caused by mutation in the WDR72 gene (613214); and AI2A4 (614832), caused by mutation in the C4ORF26 gene (614829).
Amelogenesis imperfecta type 1C
MedGen UID:
388763
Concept ID:
C2673923
Disease or Syndrome
Researchers have described at least 14 forms of amelogenesis imperfecta. These types are distinguished by their specific dental abnormalities and by their pattern of inheritance. Additionally, amelogenesis imperfecta can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.\n\nAmelogenesis 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.
Amelogenesis imperfecta hypomaturation type 2A2
MedGen UID:
436540
Concept ID:
C2675858
Disease or Syndrome
Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1988).
Combined immunodeficiency due to STIM1 deficiency
MedGen UID:
440575
Concept ID:
C2748557
Disease or Syndrome
Immunodeficiency-10 (IMD10) is an autosomal recessive primary immunodeficiency characterized by onset of recurrent infections in childhood due to defective T- and NK-cell function, although the severity is variable. Affected individuals may also have hypotonia, hypohidrosis, or dental enamel hypoplasia consistent with amelogenesis imperfecta (summary by Parry et al., 2016).
Combined immunodeficiency due to ORAI1 deficiency
MedGen UID:
440578
Concept ID:
C2748568
Disease or Syndrome
Immunodeficiency-9 (IMD9) is an autosomal recessive disorder characterized by early onset of recurrent infections due to defective T-cell activation. Affected individuals also have congenital myopathy resulting in muscle weakness as well as features of ectodermal dysplasia, including soft dental enamel (summary by McCarl et al., 2009).
Amelogenesis imperfecta hypomaturation type 2A3
MedGen UID:
416381
Concept ID:
C2750771
Disease or Syndrome
Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene.
Amelogenesis imperfecta type 1G
MedGen UID:
419162
Concept ID:
C2931783
Disease or Syndrome
Amelogenesis imperfecta and gingival fibromatosis syndrome is an autosomal recessive condition characterized by mild gingival fibromatosis and dental anomalies, including hypoplastic amelogenesis imperfecta, intrapulpal calcifications, delay of tooth eruption, hypodontia/oligodontia, pericoronal radiolucencies, and unerupted teeth (Martelli-Junior et al., 2008).
TMEM165-congenital disorder of glycosylation
MedGen UID:
766485
Concept ID:
C3553571
Disease or Syndrome
CDG2K is an autosomal recessive disorder with a variable phenotype. Affected individuals show psychomotor retardation and growth retardation, and most have short stature. Other features include dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia. Serum transferrin analysis shows a CDG type II pattern (summary by Foulquier et al., 2012). For a general discussion of CDGs, see CDG1A (212065) and CDG2A (212066).
Amelogenesis imperfecta hypomaturation type 2A4
MedGen UID:
766744
Concept ID:
C3553830
Disease or Syndrome
Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene.
Amelogenesis imperfecta type 1A
MedGen UID:
859840
Concept ID:
C4011403
Disease or Syndrome
Hypoplastic amelogenesis imperfecta IA is characterized by enamel that may not develop to normal thickness. The enamel may have pits on the labial or buccal surfaces that are often arranged in rows and columns (see Witkop, 1989).
Amelogenesis imperfecta hypomaturation type 2A5
MedGen UID:
863015
Concept ID:
C4014578
Disease or Syndrome
Autosomal recessive amelogenesis imperfecta of the pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1989).
Developmental and epileptic encephalopathy, 25
MedGen UID:
863058
Concept ID:
C4014621
Disease or Syndrome
Developmental and epileptic encephalopathy-25 with amelogenesis imperfecta (DEE25) is an autosomal recessive neurologic disorder characterized by the onset of refractory seizures in early infancy. Most patients present with seizures in the neonatal period, which is often associated with status epilepticus. However, there is phenotypic variability, and some patients have onset of seizures later in infancy. Affected individuals show global developmental delay with intellectual disability and poor speech and communication. The seizures may remit somewhat with age, but there are persistent neurologic symptoms, including ataxia, spasticity, and abnormal involuntary movements. In addition to neurologic deficits, patients also have dental anomalies with amelogenesis imperfecta (summary by Thevenon et al., 2014 and Schossig et al., 2017). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Amelogenesis imperfecta type 1H
MedGen UID:
863994
Concept ID:
C4015557
Disease or Syndrome
Amelogenesis imperfecta type IH is characterized by hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored (Wang et al., 2014 and Poulter et al., 2014).
Heimler syndrome 2
MedGen UID:
903520
Concept ID:
C4225267
Disease or Syndrome
Heimler syndrome, which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, 214100), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hypoplasia of the secondary dentition, and nail abnormalities (Ratbi et al., 2015). For a discussion of genetic heterogeneity of Heimler syndrome, see HMLR1 (234580).
Amelogenesis imperfecta type 1F
MedGen UID:
898597
Concept ID:
C4225394
Disease or Syndrome
Amelogenesis imperfecta type IF (AI1F) is characterized by hypoplastic enamel of the primary and secondary dentition. The teeth may appear rough and discolored, and the tooth enamel may be absent, pitted, or of varying thickness (Poulter et al. (2014)).
Amelogenesis imperfecta, type 1J
MedGen UID:
934597
Concept ID:
C4310630
Congenital Abnormality
Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms (Witkop, 1988).
Amelogenesis imperfecta, hypomaturation type, IIa6
MedGen UID:
934632
Concept ID:
C4310665
Disease or Syndrome
Autosomal recessive amelogenesis imperfecta of the pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1989).
Bone marrow failure syndrome 3
MedGen UID:
934711
Concept ID:
C4310744
Disease or Syndrome
Bone marrow failure syndrome-3 is an autosomal recessive disorder characterized by onset of pancytopenia in early childhood. Patients may have additional variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies (summary by Tummala et al., 2016). BMFS3 has a distinct phenotype and may include features that overlap with Shwachman-Diamond syndrome (SDS1; 260400), such as pancreatic insufficiency and short stature, and with dyskeratosis congenita (see, e.g., DKCA1, 127550), such as dental and hair abnormalities and shortened telomeres. In addition, some patients may have joint and skeletal abnormalities, impaired development, and retinal dysplasia (summary by D'Amours et al., 2018). For a discussion of genetic heterogeneity of BMFS, see BMFS1 (614675).
Specific granule deficiency 2
MedGen UID:
1371952
Concept ID:
C4479548
Disease or Syndrome
Specific granule deficiency-2 (SGD2) is an autosomal recessive immunologic disorder characterized by recurrent infections due to defective neutrophil development. Bone marrow findings include paucity of neutrophil granulocytes, absence of granule proteins in neutrophils, abnormal megakaryocytes, and features of progressive myelofibrosis with blasts. The disorder is apparent from infancy, and patients may die in early childhood unless they undergo hematopoietic stem cell transplantation. Most patients have additional findings, including delayed development, mild dysmorphic features, tooth abnormalities, and distal skeletal defects (Witzel et al., 2017). For a discussion of genetic heterogeneity of SGD, see SGD1 (245480).
Amelogenesis imperfecta type 3B
MedGen UID:
1621302
Concept ID:
C4539891
Disease or Syndrome
Hypomineralized amelogenesis imperfecta type IIIB (AI3B) is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places (Smith et al., 2016).
Heimler syndrome 1
MedGen UID:
1647369
Concept ID:
C4551980
Disease or Syndrome
Heimler syndrome-1 (HMLR1), which represents the mildest end of the peroxisomal biogenesis disorder spectrum (see PBD1A, 214100), is a rare autosomal recessive disorder characterized by sensorineural hearing loss, enamel hyoplasia of the secondary dentition, and nail abnormalities (Ratbi et al., 2015). Genetic Heterogeneity of Heimler Syndrome Another form of Heimler syndrome (HMLR2; 616617) is caused by mutation in the PEX6 gene (601498) on chromosome 6p21.
Renal hypomagnesemia 5 with ocular involvement
MedGen UID:
1648449
Concept ID:
C4721891
Disease or Syndrome
HOMG5 is an autosomal recessive disorder characterized by severe renal magnesium wasting, progressive renal failure, and nephrocalcinosis. Some patients also have severe visual impairment. Amelogenesis imperfecta has been reported in some patients (summary by Konrad et al., 2006 and Yamaguti et al., 2017). For a discussion of genetic heterogeneity of renal hypomagnesemia, see 602014.
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
MedGen UID:
1676818
Concept ID:
C5193055
Disease or Syndrome
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS)is characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, moderate hearing impairment, and mildly impaired intellectual development (Ashikov et al., 2018).
Amelogenesis imperfecta, type 3c
MedGen UID:
1676410
Concept ID:
C5193069
Disease or Syndrome
Amelogenesis imperfecta type IIIC is characterized by hypocalcified enamel in both the primary and secondary dentition. The enamel is rough and yellow-brown; under normal use, the enamel disintegrates from occlusal surfaces of the molars, leaving a ring of intact enamel remaining on the sides. Some affected individuals have anterior open bite (Kim et al., 2019).
Kohlschutter-Tonz syndrome-like
MedGen UID:
1781649
Concept ID:
C5543202
Disease or Syndrome
Den Hoed-de Boer-Voisin syndrome (DHDBV) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. The phenotype is reminiscent of Kohlschutter-Tonz syndrome (KTZS; 226750). More variable features of DHDBV include visual defects, behavioral abnormalities, and nonspecific involvement of other organ systems (summary by den Hoed et al., 2021).
Amelogenesis imperfecta, IIa 1K
MedGen UID:
1824019
Concept ID:
C5774246
Disease or Syndrome
Amelogenesis imperfecta type 1K (AI1K) is characterized by hypoplastic enamel of all teeth. In some individuals, the pulp chambers may be enlarged and some molars may exhibit taurodontism (summary by Kim et al., 2021).

Professional guidelines

PubMed

Broutin A, K Bidi-Lebihan A, Canceill T, Vaysse F, Bloch-Zupan A, Bailleul-Forestier I, Noirrit-Esclassan E
Int Orthod 2023 Dec;21(4):100789. Epub 2023 Jul 24 doi: 10.1016/j.ortho.2023.100789. PMID: 37494776
Sabandal MM, Schäfer E
Odontology 2016 Sep;104(3):245-56. Epub 2016 Aug 22 doi: 10.1007/s10266-016-0266-1. PMID: 27550338
Wright JT, Hart PS, Aldred MJ, Seow K, Crawford PJ, Hong SP, Gibson CW, Hart TC
Connect Tissue Res 2003;44 Suppl 1:72-8. PMID: 12952177

Recent clinical studies

Etiology

Wang YL, Lin HC, Liang T, Lin JC, Simmer JP, Hu JC, Wang SK
J Dent Res 2024 Jun;103(6):662-671. Epub 2024 May 8 doi: 10.1177/00220345241236695. PMID: 38716742Free PMC Article
Bilge NH, Yeşiltepe S, Törenek Ağırman K, Çağlayan F, Bilge OM
Folia Morphol (Warsz) 2018;77(2):323-328. Epub 2017 Sep 21 doi: 10.5603/FM.a2017.0087. PMID: 28933802
Seow WK
Aust Dent J 2014 Jun;59 Suppl 1:143-54. Epub 2013 Oct 27 doi: 10.1111/adj.12104. PMID: 24164394
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896Free PMC Article
Crawford PJ, Aldred M, Bloch-Zupan A
Orphanet J Rare Dis 2007 Apr 4;2:17. doi: 10.1186/1750-1172-2-17. PMID: 17408482Free PMC Article

Diagnosis

Roma M, Hegde P, Durga Nandhini M, Hegde S
J Med Case Rep 2021 Feb 9;15(1):67. doi: 10.1186/s13256-020-02586-4. PMID: 33557885Free PMC Article
Bilge NH, Yeşiltepe S, Törenek Ağırman K, Çağlayan F, Bilge OM
Folia Morphol (Warsz) 2018;77(2):323-328. Epub 2017 Sep 21 doi: 10.5603/FM.a2017.0087. PMID: 28933802
Sabandal MM, Schäfer E
Odontology 2016 Sep;104(3):245-56. Epub 2016 Aug 22 doi: 10.1007/s10266-016-0266-1. PMID: 27550338
Seow WK
Aust Dent J 2014 Jun;59 Suppl 1:143-54. Epub 2013 Oct 27 doi: 10.1111/adj.12104. PMID: 24164394
Crawford PJ, Aldred M, Bloch-Zupan A
Orphanet J Rare Dis 2007 Apr 4;2:17. doi: 10.1186/1750-1172-2-17. PMID: 17408482Free PMC Article

Therapy

Broutin A, K Bidi-Lebihan A, Canceill T, Vaysse F, Bloch-Zupan A, Bailleul-Forestier I, Noirrit-Esclassan E
Int Orthod 2023 Dec;21(4):100789. Epub 2023 Jul 24 doi: 10.1016/j.ortho.2023.100789. PMID: 37494776
Dashash M, Yeung CA, Jamous I, Blinkhorn A
Cochrane Database Syst Rev 2013 Jun 6;2013(6):CD007157. doi: 10.1002/14651858.CD007157.pub2. PMID: 23744349Free PMC Article
Moradian-Oldak J
Front Biosci (Landmark Ed) 2012 Jun 1;17(6):1996-2023. doi: 10.2741/4034. PMID: 22652761Free PMC Article
Vadiakas GP, Oulis C
Int J Paediatr Dent 1994 Dec;4(4):209-16. doi: 10.1111/j.1365-263x.1994.tb00137.x. PMID: 7748859
Pindborg JJ
Int Dent J 1982 Jun;32(2):123-34. PMID: 6749692

Prognosis

Shemirani R, Le MH, Nakano Y
J Dent Res 2023 Oct;102(11):1210-1219. Epub 2023 Aug 10 doi: 10.1177/00220345231180572. PMID: 37563801Free PMC Article
Pach J, Regulski PA, Tomczyk J, Strużycka I
Adv Clin Exp Med 2022 Dec;31(12):1385-1389. doi: 10.17219/acem/152120. PMID: 36000881
Durin Z, Dubail J, Layotte A, Legrand D, Cormier-Daire V, Foulquier F
Hum Genet 2022 Jul;141(7):1287-1298. Epub 2022 Jan 8 doi: 10.1007/s00439-021-02420-x. PMID: 34999954
Ceyhan D, Kirzioglu Z, Emek T
Niger J Clin Pract 2019 Aug;22(8):1157-1162. doi: 10.4103/njcp.njcp_227_18. PMID: 31417061
Kurisu K, Tabata MJ
Oral Dis 1997 Dec;3(4):223-8. doi: 10.1111/j.1601-0825.1997.tb00045.x. PMID: 9643216

Clinical prediction guides

Shemirani R, Le MH, Nakano Y
J Dent Res 2023 Oct;102(11):1210-1219. Epub 2023 Aug 10 doi: 10.1177/00220345231180572. PMID: 37563801Free PMC Article
Tekçe N, Demirci M, Tuncer S, Güder G, Sancak EI
J Adhes Dent 2022 Mar 24;24(1):77-86. doi: 10.3290/j.jad.b2838105. PMID: 35322945
Wang SK, Zhang H, Hu CY, Liu JF, Chadha S, Kim JW, Simmer JP, Hu JCC
J Dent Res 2021 Mar;100(3):293-301. Epub 2020 Oct 9 doi: 10.1177/0022034520962731. PMID: 33034243Free PMC Article
Kammoun R, Zmantar T, Labidi A, Abbes I, Mansour L, Ghoul-Mazgar S
Microb Pathog 2019 Oct;135:103615. Epub 2019 Jun 27 doi: 10.1016/j.micpath.2019.103615. PMID: 31254603
Crawford PJ, Aldred M, Bloch-Zupan A
Orphanet J Rare Dis 2007 Apr 4;2:17. doi: 10.1186/1750-1172-2-17. PMID: 17408482Free PMC Article

Recent systematic reviews

Broutin A, K Bidi-Lebihan A, Canceill T, Vaysse F, Bloch-Zupan A, Bailleul-Forestier I, Noirrit-Esclassan E
Int Orthod 2023 Dec;21(4):100789. Epub 2023 Jul 24 doi: 10.1016/j.ortho.2023.100789. PMID: 37494776
Appelstrand SB, Robertson A, Sabel N
Eur Arch Paediatr Dent 2022 Dec;23(6):885-895. Epub 2022 Jul 27 doi: 10.1007/s40368-022-00737-3. PMID: 35896941Free PMC Article
da Cunha Coelho ASE, Mata PCM, Lino CA, Macho VMP, Areias CMFGP, Norton APMAP, Augusto APCM
J Esthet Restor Dent 2019 Jan;31(1):26-39. Epub 2018 Oct 4 doi: 10.1111/jerd.12420. PMID: 30284749
Dashash M, Yeung CA, Jamous I, Blinkhorn A
Cochrane Database Syst Rev 2013 Jun 6;2013(6):CD007157. doi: 10.1002/14651858.CD007157.pub2. PMID: 23744349Free PMC Article
Poulsen S, Gjørup H, Haubek D, Haukali G, Hintze H, Løvschall H, Errboe M
Acta Odontol Scand 2008 Aug;66(4):193-9. doi: 10.1080/00016350802192071. PMID: 18615322

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