U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Dentinogenesis imperfecta

MedGen UID:
8313
Concept ID:
C0011436
Congenital Abnormality
Synonym: Dentinogenesis Imperfecta
SNOMED CT: Dentinogenesis imperfecta (196286005); Hereditary opalescent dentin (196286005)
Modes of inheritance:
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.
 
HPO: HP:0000703
Monarch Initiative: MONDO:0018849
Orphanet: ORPHA49042

Definition

Developmental dysplasia of dentin. [from HPO]

Conditions with this feature

Osteogenesis imperfecta type I
MedGen UID:
9799
Concept ID:
C0023931
Disease or Syndrome
COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).
Brittle cornea syndrome 1
MedGen UID:
78661
Concept ID:
C0268344
Disease or Syndrome
Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). Genetic Heterogeneity of Brittle Cornea Syndrome Brittle cornea syndrome-2 (BCS2; 614170) is caused by mutation in the PRDM5 gene (614161) on chromosome 4q27.
Osteogenesis imperfecta type III
MedGen UID:
78664
Concept ID:
C0268362
Disease or Syndrome
COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).
Osteogenesis imperfecta with normal sclerae, dominant form
MedGen UID:
78665
Concept ID:
C0268363
Congenital Abnormality
COL1A1/2 osteogenesis imperfecta (COL1A1/2-OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone but are most common in the extremities. DI is characterized by gray or brown teeth that may appear translucent, wear down, and break easily. COL1A1/2-OI has been classified into four types based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four more common OI types are now referred to as follows: Classic non-deforming OI with blue sclerae (previously OI type I). Perinatally lethal OI (previously OI type II). Progressively deforming OI (previously OI type III). Common variable OI with normal sclerae (previously OI type IV).
Dentinogenesis imperfecta type 3
MedGen UID:
97995
Concept ID:
C0399378
Congenital Abnormality
Dentinogenesis imperfecta, Shields type III (DGI-III) is an autosomal dominant disorder of dentin formation. DGI presents clinically with gray to brownish-blue discoloration of the teeth and rapid attrition of the crowns, which are bulbous. There are no skeletal manifestations. Both deciduous and permanent teeth are affected (summary by MacDougall et al., 1999).
Osteogenesis imperfecta type 9
MedGen UID:
376720
Concept ID:
C1850169
Disease or Syndrome
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized clinically by bone fragility and increased susceptibility to fractures. Osteogenesis imperfecta type IX (OI9) is a severe autosomal recessive form of the disorder (summary by van Dijk et al., 2009).
Osteogenesis imperfecta type 7
MedGen UID:
343981
Concept ID:
C1853162
Disease or Syndrome
Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006).
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
MedGen UID:
340145
Concept ID:
C1854146
Disease or Syndrome
Osteogenesis imperfecta type 8
MedGen UID:
410075
Concept ID:
C1970458
Disease or Syndrome
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Cabral et al. (2007) described a form of autosomal recessive OI, which they designated OI type VIII, characterized by white sclerae, severe growth deficiency, extreme skeletal undermineralization, and bulbous metaphyses.
Osteogenesis imperfecta type 5
MedGen UID:
419332
Concept ID:
C2931093
Disease or Syndrome
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most forms of OI are autosomal dominant with mutations in one of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Glorieux et al. (2000) described a novel autosomal dominant form of OI, which they designated OI type V (OI5), in 7 patients. The disorder was similar to OI type IV but had distinctive clinical, histologic, and molecular characteristics. OI type V is characterized by calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation (summary by Cho et al., 2012). OI type V has a variable phenotype. For example, in patients with the more common c.-14C-T variant (614757.0001), distinctive radiographic findings (calcification of the forearm interosseous membrane, radial head dislocation, a subphyseal metaphyseal radiodense line, and hyperplastic callus formation) are often seen, whereas these findings are not seen in patients with the less common S40L variant (614757.0002).
Dentinogenesis imperfecta type 2
MedGen UID:
424922
Concept ID:
C2973527
Disease or Syndrome
Some researchers believe that dentinogenesis imperfecta type II and type III, along with a condition called dentin dysplasia type II, are actually forms of a single disorder. The signs and symptoms of dentin dysplasia type II are very similar to those of dentinogenesis imperfecta. However, dentin dysplasia type II affects the primary teeth much more than the permanent teeth.\n\nResearchers have described three types of dentinogenesis imperfecta with similar dental abnormalities. Type I occurs in people who have osteogenesis imperfecta, a genetic condition in which bones are brittle and easily broken. Dentinogenesis imperfecta type II and type III usually occur in people without other inherited disorders. A few older individuals with type II have had progressive high-frequency hearing loss in addition to dental abnormalities, but it is not known whether this hearing loss is related to dentinogenesis imperfecta.\n\nDentinogenesis imperfecta is a disorder of tooth development. This condition causes the teeth to be discolored (most often a blue-gray or yellow-brown color) and translucent. Teeth are also weaker than normal, making them prone to rapid wear, breakage, and loss. These problems can affect both primary (baby) teeth and permanent teeth.
Osteogenesis imperfecta type 10
MedGen UID:
462561
Concept ID:
C3151211
Disease or Syndrome
Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type X is an autosomal recessive form characterized by multiple bone deformities and fractures, generalized osteopenia, dentinogenesis imperfecta, and blue sclera (Christiansen et al., 2010).
Osteogenesis imperfecta type 11
MedGen UID:
462568
Concept ID:
C3151218
Disease or Syndrome
Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XI is an autosomal recessive form of OI (summary by Alanay et al., 2010).
Osteogenesis imperfecta type 12
MedGen UID:
462783
Concept ID:
C3151433
Disease or Syndrome
Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. OI type XII is an autosomal recessive form characterized by recurrent fractures, mild bone deformations, generalized osteoporosis, delayed teeth eruption, progressive hearing loss, no dentinogenesis imperfecta, and white sclerae (summary by Lapunzina et al., 2010).
Osteogenesis imperfecta type 6
MedGen UID:
481194
Concept ID:
C3279564
Disease or Syndrome
Osteogenesis imperfecta (OI) comprises a group of connective tissue disorders characterized by bone fragility and low bone mass. The disorder is clinically and genetically heterogeneous. Osteogenesis imperfecta type VI is a severe autosomal recessive form of the disorder (Glorieux et al., 2002; Becker et al., 2011).
Osteogenesis imperfecta type 13
MedGen UID:
766801
Concept ID:
C3553887
Disease or Syndrome
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Martinez-Glez et al. (2012) described osteogenesis imperfecta type XIII, an autosomal recessive form of the disorder characterized by normal teeth, faint blue sclerae, severe growth deficiency, borderline osteoporosis, and an average of 10 to 15 fractures a year affecting both upper and lower limbs and with severe bone deformity.
Osteogenesis imperfecta type 17
MedGen UID:
903845
Concept ID:
C4225301
Disease or Syndrome
Osteogenesis imperfecta (OI) is a group of genetic disorders that mainly affect the bones. The term "osteogenesis imperfecta" means imperfect bone formation. People with this condition have bones that break (fracture) easily, often from mild trauma or with no apparent cause. Multiple fractures are common, and in severe cases, can occur even before birth. Milder cases may involve only a few fractures over a person's lifetime.\n\nThe milder forms of osteogenesis imperfecta, including type I, are characterized by bone fractures during childhood and adolescence that often result from minor trauma, such as falling while learning to walk. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and about half develop hearing loss in adulthood. Unlike more severely affected individuals, people with type I are usually of normal or near normal height.\n\nThere are at least 19 recognized forms of osteogenesis imperfecta, designated type I through type XIX. Several types are distinguished by their signs and symptoms, although their characteristic features overlap. Increasingly, genetic causes are used to define rarer forms of osteogenesis imperfecta. Type I (also known as classic non-deforming osteogenesis imperfecta with blue sclerae) is the mildest form of osteogenesis imperfecta. Type II (also known as perinatally lethal osteogenesis imperfecta) is the most severe. Other types of this condition, including types III (progressively deforming osteogenesis imperfecta) and IV (common variable osteogenesis imperfecta with normal sclerae), have signs and symptoms that fall somewhere between these two extremes.\n\nOther types of osteogenesis imperfecta are more severe, causing frequent bone fractures that are present at birth and result from little or no trauma. Additional features of these types can include blue sclerae of the eyes, short stature, curvature of the spine (scoliosis), joint deformities (contractures), hearing loss, respiratory problems, and a disorder of tooth development called dentinogenesis imperfecta. Mobility can be reduced in affected individuals, and some may use a walker or wheelchair. The most severe forms of osteogenesis imperfecta, particularly type II, can include an abnormally small, fragile rib cage and underdeveloped lungs. Infants with these abnormalities may have life-threatening problems with breathing and can die shortly after birth.
Cole-Carpenter syndrome 2
MedGen UID:
905199
Concept ID:
C4225382
Disease or Syndrome
Cole-Carpenter syndrome-2 (CLCRP2) is a skeletal dysplasia associated with low bone mass or an osteogenesis imperfecta-like syndrome. It is characterized by bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features such as marked frontal bossing, midface hypoplasia, and micrognathia (summary by Takeyari et al., 2018).
Cole-Carpenter syndrome 1
MedGen UID:
1374755
Concept ID:
C4317154
Disease or Syndrome
Cole-Carpenter syndrome is characterized by bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features (Cole and Carpenter, 1987). Genetic Heterogeneity of Cole-Carpenter Syndrome Cole-Carpenter syndrome-2 (CLCRP2; 616294) is caused by mutation in the SEC24D gene (607186).
Osteogenesis imperfecta, type 19
MedGen UID:
1648353
Concept ID:
C4746956
Disease or Syndrome
Osteogenesis imperfecta type XIX (OI19) is characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, as well as variable scoliosis and pectal deformity, and marked anterior angulation of the tibia (Lindert et al., 2016).
Odontochondrodysplasia 1
MedGen UID:
1784281
Concept ID:
C5542277
Disease or Syndrome
Odontochondrodysplasia-1 (ODCD1) is characterized by mesomelic shortening of tubular bones, ligamentous laxity, and scoliosis, in association with dentinogenesis imperfecta involving both primary and secondary dentition. Affected individuals show variable severity. Radiologic features include trident pelvis, posteriorly flattened vertebrae, and brachydactyly with cone-shaped epiphyses (Maroteaux et al., 1996). Clinical variability and extraskeletal manifestations have been observed (Wehrle et al., 2019). Genetic Heterogeneity of Odontochondrodysplasia Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2; 619269) is caused by mutation in the TANGO1 gene (MIA3; 613455) on chromosome 1q41.
Odontochondrodysplasia 2 with hearing loss and diabetes
MedGen UID:
1782909
Concept ID:
C5543275
Disease or Syndrome
Odontochondrodysplasia-2 with hearing loss and diabetes (ODCD2) is characterized by growth retardation with proportionate short stature, dentinogenesis imperfecta, sensorineural hearing loss, insulin-dependent diabetes, and mild intellectual disability (Cauwels et al., 2005; Lekszas et al., 2020). For a discussion of genetic heterogeneity of ODCD, see ODCD1 (184260).
Osteogenesis imperfecta, IIA 22
MedGen UID:
1801631
Concept ID:
C5676943
Disease or Syndrome
Osteogenesis imperfecta comprises a group of connective tissue disorders characterized clinically by bone fragility, low bone mass, and increased susceptibility to fractures. Osteogenesis imperfecta type XXII (OI22) is a severe recessive form of the disease (Dubail et al., 2020).

Professional guidelines

PubMed

Thomas IH, DiMeglio LA
Curr Osteoporos Rep 2016 Feb;14(1):1-9. doi: 10.1007/s11914-016-0299-y. PMID: 26861807
Hoyer-Kuhn H, Netzer C, Semler O
Wien Med Wochenschr 2015 Jul;165(13-14):278-84. Epub 2015 Jun 9 doi: 10.1007/s10354-015-0361-x. PMID: 26055811
Burnei G, Vlad C, Georgescu I, Gavriliu TS, Dan D
J Am Acad Orthop Surg 2008 Jun;16(6):356-66. doi: 10.5435/00124635-200806000-00008. PMID: 18524987

Recent clinical studies

Etiology

Gutierrez Gossweiler A, Martinez-Mier EA
Monogr Oral Sci 2020;28:59-67. Epub 2019 Nov 7 doi: 10.1159/000455372. PMID: 31940621
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
Huber MA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Mar;103(3):314-20. Epub 2007 Jan 12 doi: 10.1016/j.tripleo.2006.10.003. PMID: 17223585

Diagnosis

Su T, Zhu Y, Wang X, Zhu Q, Duan X
Oral Dis 2023 Sep;29(6):2376-2393. Epub 2023 Apr 24 doi: 10.1111/odi.14589. PMID: 37094075
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
Marini JC, Forlino A, Bächinger HP, Bishop NJ, Byers PH, Paepe A, Fassier F, Fratzl-Zelman N, Kozloff KM, Krakow D, Montpetit K, Semler O
Nat Rev Dis Primers 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52. PMID: 28820180
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

Therapy

Maioli M, Gnoli M, Boarini M, Tremosini M, Zambrano A, Pedrini E, Mordenti M, Corsini S, D'Eufemia P, Versacci P, Celli M, Sangiorgi L
Eur J Hum Genet 2019 Jul;27(7):1090-1100. Epub 2019 Mar 18 doi: 10.1038/s41431-019-0373-x. PMID: 30886339Free PMC Article
Thomas IH, DiMeglio LA
Curr Osteoporos Rep 2016 Feb;14(1):1-9. doi: 10.1007/s11914-016-0299-y. PMID: 26861807
Hoyer-Kuhn H, Netzer C, Semler O
Wien Med Wochenschr 2015 Jul;165(13-14):278-84. Epub 2015 Jun 9 doi: 10.1007/s10354-015-0361-x. PMID: 26055811
Burnei G, Vlad C, Georgescu I, Gavriliu TS, Dan D
J Am Acad Orthop Surg 2008 Jun;16(6):356-66. doi: 10.5435/00124635-200806000-00008. PMID: 18524987
Huber MA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Mar;103(3):314-20. Epub 2007 Jan 12 doi: 10.1016/j.tripleo.2006.10.003. PMID: 17223585

Prognosis

Travessa AM, Dias P, Rosmaninho-Salgado J, Aza-Carmona M, Moldovan O, Díaz-González F, Godinho F, Romeu JC, Oliveira-Ramos F, do Céu Barreiros M, Sousa SB, Heath KE, Sousa AB
Eur J Med Genet 2023 Nov;66(11):104867. Epub 2023 Oct 13 doi: 10.1016/j.ejmg.2023.104867. PMID: 37839784
Yamaguti PM, de La Dure-Molla M, Monnot S, Cardozo-Amaya YJ, Baujat G, Michot C, Fournier BPJ, Riou MC, Caldas Rosa ECC, Soares de Lima Y, Dos Santos PAC, Alcaraz G, Guerra ENS, Castro LC, de Oliveira SF, Pogue R, Berdal A, de Paula LM, Mazzeu JF, Cormier-Daire V, Acevedo AC
J Dent Res 2023 Jun;102(6):616-625. Epub 2023 Mar 23 doi: 10.1177/00220345231154569. PMID: 36951356
Harsevoort AGJ, Gooijer K, van Dijk FS, van der Grijn DAFM, Franken AAM, Dommisse AMV, Janus GJM
BMC Musculoskelet Disord 2020 Jan 3;21(1):6. doi: 10.1186/s12891-019-3000-7. PMID: 31900144Free PMC Article
Maioli M, Gnoli M, Boarini M, Tremosini M, Zambrano A, Pedrini E, Mordenti M, Corsini S, D'Eufemia P, Versacci P, Celli M, Sangiorgi L
Eur J Hum Genet 2019 Jul;27(7):1090-1100. Epub 2019 Mar 18 doi: 10.1038/s41431-019-0373-x. PMID: 30886339Free PMC Article
Andersson K, Malmgren B, Åström E, Dahllöf G
Orphanet J Rare Dis 2018 Aug 22;13(1):145. doi: 10.1186/s13023-018-0887-2. PMID: 30134932Free PMC Article

Clinical prediction guides

Yamaguti PM, de La Dure-Molla M, Monnot S, Cardozo-Amaya YJ, Baujat G, Michot C, Fournier BPJ, Riou MC, Caldas Rosa ECC, Soares de Lima Y, Dos Santos PAC, Alcaraz G, Guerra ENS, Castro LC, de Oliveira SF, Pogue R, Berdal A, de Paula LM, Mazzeu JF, Cormier-Daire V, Acevedo AC
J Dent Res 2023 Jun;102(6):616-625. Epub 2023 Mar 23 doi: 10.1177/00220345231154569. PMID: 36951356
Mack Wilson J, Bell C, Queck K, Scott K
J Vet Dent 2022 Dec;39(4):376-390. Epub 2022 Sep 15 doi: 10.1177/08987564221123419. PMID: 36113440
Maioli M, Gnoli M, Boarini M, Tremosini M, Zambrano A, Pedrini E, Mordenti M, Corsini S, D'Eufemia P, Versacci P, Celli M, Sangiorgi L
Eur J Hum Genet 2019 Jul;27(7):1090-1100. Epub 2019 Mar 18 doi: 10.1038/s41431-019-0373-x. PMID: 30886339Free PMC Article
de La Dure-Molla M, Philippe Fournier B, Berdal A
Eur J Hum Genet 2015 Apr;23(4):445-51. Epub 2014 Aug 13 doi: 10.1038/ejhg.2014.159. PMID: 25118030Free PMC Article
Huber MA
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2007 Mar;103(3):314-20. Epub 2007 Jan 12 doi: 10.1016/j.tripleo.2006.10.003. PMID: 17223585

Recent systematic reviews

Prado HV, Soares ECB, Carneiro NCR, Vilar ICO, Abreu LG, Borges-Oliveira AC
J Appl Oral Sci 2023;31:e20230040. Epub 2023 Sep 4 doi: 10.1590/1678-7757-2023-0040. PMID: 37672427Free PMC Article
Mc Donald D, Mc Donnell T, Martin-Grace J, Mc Manus G, Crowley RK
Orphanet J Rare Dis 2023 Feb 22;18(1):36. doi: 10.1186/s13023-023-02643-3. PMID: 36814291Free PMC Article
Gug C, Caba L, Mozos I, Stoian D, Atasie D, Gug M, Gorduza EV
Gene 2020 May 30;741:144565. Epub 2020 Mar 10 doi: 10.1016/j.gene.2020.144565. PMID: 32165296
Kapferer-Seebacher I, Schnabl D, Zschocke J, Pope FM
Acta Derm Venereol 2020 Mar 25;100(7):adv00092. doi: 10.2340/00015555-3428. PMID: 32147746Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...