Research & Literature

Bilateral nephrocalcinosis and amelogenesis imperfecta: A case report.

Patel A, Jagtap C, Bhat C, Shah R

Contemporary clinical dentistry 2015; (6(2)):262-5 doi:10.4103/0976-237X.156063.

Amelogenesis Imperfecta, Facial Esthetics and Snap-On Smile.

Wilson L, Bradshaw JP, Marks MK

The Journal of the Tennessee Dental Association 2015; (95(1)):18-21; quiz 22-3.

Oral health-related quality of life before and after crown therapy in young patients with amelogenesis imperfecta.

Pousette Lundgren G, Karsten A, Dahllöf G

Health and quality of life outcomes 2015; (13()):197 doi:10.1186/s12955-015-0393-3.

Management of Amelogenesis Imperfecta: A 15-Year Case History of Two Siblings.

Dursun E, Savard E, Vargas C, et al.

Operative dentistry 2016; (41(6)):567-577 doi:10.2341/15-372-T.

Title not available

Ramseyer S, Lussi A

Swiss dental journal 2016; (126(9)):796-797 doi:10.61872/sdj-2016-09-02.

A novel clinical approach for long-term retention and durability of resin restorations bonded to multiple developmental defects of enamel.

Harika R, Dutta B, Arun P, Teja RP

Journal of International Society of Preventive & Community Dentistry 2016; (6(6)):597-601 doi:10.4103/2231-0762.195507.

Periodontal disease and FAM20A mutations.

Kantaputra PN, Bongkochwilawan C, Lubinsky M, et al.

Journal of human genetics 2017; (62(7)):679-686 doi:10.1038/jhg.2017.26.

Analyses of MMP20 Missense Mutations in Two Families with Hypomaturation Amelogenesis Imperfecta.

Kim YJ, Kang J, Seymen F, et al.

Frontiers in physiology 2017; (8()):229 doi:10.3389/fphys.2017.00229.

Amelogenesis Imperfecta: Case Study.

Leevailoj C, Lawanrattanakul S, Mahatumarat K

Operative dentistry 2017; (42(5)):457-469 doi:10.2341/13-256-S.

Association of Amelogenesis Imperfecta and Bartter's Syndrome.

Kumar ACV, Alekya V, Krishna MSVV, et al.

Indian journal of nephrology 2017; (27(5)):399-401 doi:10.4103/ijn.IJN_203_16.

Complete rehabilitation of compromised full dentitions with adhesively bonded all-ceramic single-tooth restorations: Long-term outcome in patients with and without amelogenesis imperfecta.

Klink A, Groten M, Huettig F

Journal of dentistry 2018; (70()):51-58 doi:10.1016/j.jdent.2017.12.011.

Restorative Treatment in Patients with Amelogenesis Imperfecta: A Review.

Strauch S, Hahnel S

Journal of prosthodontics : official journal of the American College of Prosthodontists 2018; (27(7)):618-623 doi:10.1111/jopr.12736.

Nephrocalcinosis in Amelogenesis Imperfecta Caused by the FAM20A Mutation.

Koruyucu M, Seymen F, Gencay G, et al.

Nephron 2018; (139(2)):189-196 doi:10.1159/000486607.

Enamel-Renal-Syndrome: case report.

Torres LHS, de-Azevedo-Vaz SL, Barroso DRC, et al.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry 2018; (38(3)):172-175 doi:10.1111/scd.12288.

Enamel renal syndrome: A novel homozygous FAM20A founder mutation in 5 new Brazilian families.

Dourado MR, Dos Santos CRR, Dumitriu S, et al.

European journal of medical genetics 2019; (62(11)):103561 doi:10.1016/j.ejmg.2018.10.013.

Mutations in RELT cause autosomal recessive amelogenesis imperfecta.

Kim JW, Zhang H, Seymen F, et al.

Clinical genetics 2019; (95(3)):375-383 doi:10.1111/cge.13487.

Enamel renal gingival syndrome: A rare case report.

Debnath K, Couthino A, Chatterjee A, Shenoy S

Journal of Indian Society of Periodontology 2019; (23(1)):69-72 doi:10.4103/jisp.jisp_532_18.

Full-mouth Rehabilitation of Hypocalcified-type Amelogenesis Imperfecta With Chairside Computer-aided Design and Computer-aided Manufacturing: A Case Report.

Moussally C, Fron-Chabouis H, Charrière A, et al.

Operative dentistry 2019; (44(3)):E145-E158 doi:10.2341/17-241-T.

Diversity of clinical, radiographic and genealogical findings in 41 families with amelogenesis imperfecta.

Adorno-Farias D, Ortega-Pinto A, Gajardo P, et al.

Journal of applied oral science : revista FOB 2019; (27()):e20180359 doi:10.1590/1678-7757-2018-0359.

The Enamel Phenotype in Homozygous Fam83h Truncation Mice.

Wang SK, Hu Y, Smith CE, et al.

Molecular genetics & genomic medicine 2019; (7(6)):e724 doi:10.1002/mgg3.724.

Etching Patterns of Sodium Hypochlorite Pretreated Hypocalcified Amelogenesis Imperfecta Primary Molars: SEM Study.

Ahmed AM, Nagy D, Elkateb MA

The Journal of clinical pediatric dentistry 2019; (43(4)):257-262 doi:10.17796/1053-4625-43.4.6.

Dental caries and hypoplastic amelogenesis imperfecta: Clinical, structural, biochemical and molecular approaches.

Kammoun R, Zmantar T, Labidi A, et al.

Microbial pathogenesis 2019; (135()):103615 doi:10.1016/j.micpath.2019.103615.

Effects of Deproteinization on Bond Strength of Composite to Primary Teeth Affected by Amelogenesis.

Bayrak S, Tuloglu N, Tunc ES

Pediatric dentistry 2019; (41(4)):304-308.

Four novel mutations of FAM20A in amelogenesis imperfecta type IG and review of literature for its genotype and phenotype spectra.

Nitayavardhana I, Theerapanon T, Srichomthong C, et al.

Molecular genetics and genomics : MGG 2020; (295(4)):923-931 doi:10.1007/s00438-020-01668-8.

Orthognathic surgery with two-segment le fort i and sagittal split ramus osteotomies of open bite deformity in an amelogenesis imperfecta patient via virtual planning: A case report.

Ertas U, Ataol M, Kiki A, Uğurlu M

Nigerian journal of clinical practice 2020; (23(4)):577-580 doi:10.4103/njcp.njcp_316_19.

The Association Between Developmental Defects of Enamel and Early Childhood Caries in American Indian Children: A Retrospective Chart Review.

Pierce A, Zimmer J, Levans A, Schroth RJ

Pediatric dentistry 2020; (42(2)):126-131.

Malnutrition, enamel defects, and early childhood caries in preschool children in a sub-urban Nigeria population.

Folayan MO, El Tantawi M, Oginni AB, et al.

PloS one 2020; (15(7)):e0232998 doi:10.1371/journal.pone.0232998.

Two new families with enamel renal syndrome: A novel FAM20A gene mutation and review of literature.

Hassib NF, Shoeib MA, ElSadek HA, et al.

European journal of medical genetics 2020; (63(11)):104045 doi:10.1016/j.ejmg.2020.104045.

Gingival inflammation, enamel defects, and tooth sensitivity in children with amelogenesis imperfecta: a case-control study.

Quandalle C, Boillot A, Fournier B, et al.

Journal of applied oral science : revista FOB 2020; (28()):e20200170 doi:10.1590/1678-7757-2020-0170.

Restorative treatment in a case of amelogenesis imperfecta and 9-year follow-up: a case report.

Sabandal MMI, Dammaschke T, Schäfer E

Head & face medicine 2020; (16(1)):28 doi:10.1186/s13005-020-00243-1.

Multiloop edgewise archwire technique and denture frame analysis: a systematic review.

Tabancis M, Ratzmann A, Doberschütz P, Krey KF

Head & face medicine 2020; (16(1)):32 doi:10.1186/s13005-020-00247-x.

Odontogenesis-associated phosphoprotein truncation blocks ameloblast transition into maturation in OdaphC41*/C41* mice.

Liang T, Hu Y, Kawasaki K, et al.

Scientific reports 2021; (11(1)):1132 doi:10.1038/s41598-020-80912-y.

Management guidelines for amelogenesis imperfecta: a case report and review of the literature.

Roma M, Hegde P, Durga Nandhini M, Hegde S

Journal of medical case reports 2021; (15(1)):67 doi:10.1186/s13256-020-02586-4.

Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20.

Nikolopoulos G, Smith CEL, Poulter JA, et al.

Human mutation 2021; (42(5)):567-576 doi:10.1002/humu.24187.

Molar-incisor hypomineralisation: narrative review on etiology, epidemiology, diagnostics and treatment decision.

Dulla JA, Meyer-Lueckel H

Swiss dental journal 2021; (131(11)):886-895 doi:10.61872/sdj-2021-11-763.

Maturation stage enamel defects in Odontogenesis-associated phosphoprotein (Odaph) deficient mice.

Ji Y, Li C, Tian Y, et al.

Developmental dynamics : an official publication of the American Association of Anatomists 2021; (250(10)):1505-1517 doi:10.1002/dvdy.336.

A novel ENAM mutation causes hypoplastic amelogenesis imperfecta.

Yu S, Zhang C, Zhu C, et al.

Oral diseases 2022; (28(6)):1610-1619 doi:10.1111/odi.13877.

Assessment of Genetical, Pre, Peri and Post Natal Risk Factors of Deciduous Molar Hypomineralization (DMH), Hypomineralized Second Primary Molar (HSPM) and Molar Incisor Hypomineralization (MIH): A Narrative Review.

Butera A, Maiorani C, Morandini A, et al.

Children (Basel, Switzerland) 2021; (8(6)) doi:10.3390/children8060432.

DMF Index among Amelogenesis Imperfecta Patients: Systematic Review of the Literature.

Kallel F, Labidi A, Bekri S, et al.

International journal of dentistry 2021; (2021()):5577615 doi:10.1155/2021/5577615.

Multiloop edgewise archwire treatment for a patient with a severe anterior open bite and amelogenesis imperfecta.

Masoud AI, Tsay TP

The Angle orthodontist 2022; (92(1)):137-147 doi:10.2319/032221-228.1.

A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3.

Flex E, Imperatore V, Carpentieri G, et al.

Genes 2021; (12(9)) doi:10.3390/genes12091406.

Kohlschütter-Tönz syndrome: Case report with novel feature and detailed review of features associated with ROGDI variants.

Liepina L, Kalnina ML, Micule I, et al.

American journal of medical genetics. Part A 2022; (188(4)):1263-1279 doi:10.1002/ajmg.a.62613.

Hypomineralized Primary Teeth in Preterm Low Birth Weight Children and Its Association with Molar Incisor Hypomineralization-A 3-Year-Prospective Study.

Noor Mohamed R, Basha S, Virupaxi SG, et al.

Children (Basel, Switzerland) 2021; (8(12)) doi:10.3390/children8121111.

Clinical Performance of Direct Composite Restorations in Patients with Amelogenesis Imperfecta - Anterior Restorations.

Tekçe N, Demirci M, Tuncer S, et al.

The journal of adhesive dentistry 2022; (24()):77-86 doi:10.3290/j.jad.b2838105.

A Recurrent FAM83H Mutation in an Extended Colombian Family and Variable Craniofacial Phenotypes.

Alvarez C, Aragón MA, Lee Y, et al.

Children (Basel, Switzerland) 2022; (9(3)) doi:10.3390/children9030362.

Molar Incisor Hypomineralization: Awareness among Postdoctoral Dental Residents: A Cross-Sectional Study.

Negrescu J, Kodra L, Ziada H, et al.

Dentistry journal 2022; (10(4)) doi:10.3390/dj10040064.

Enamel renal syndrome: A case report with review of literature.

Sharma A, Patel S, Singaraju S, Singaraju M

Journal of oral and maxillofacial pathology : JOMFP 2022; (26(Suppl 1)):S129-S132 doi:10.4103/jomfp.jomfp_369_20.

Fixed prosthodontic rehabilitation with a fully digital workflow for a teenage patient with amelogenesis imperfecta: A 2-year follow-up.

Sinada N, Wang CI

The Journal of prosthetic dentistry 2024; (131(1)):1-6 doi:10.1016/j.prosdent.2022.02.025.

Full Mouth Rehabilitation Using the Twin Stage Procedure in a Patient with Amelogenesis Imperfecta: A Case Report.

Dadarwal A, Paliwal J, Sharma V, et al.

Cureus 2022; (14(5)):e25512 doi:10.7759/cureus.25512.

Patient-reported outcome measures in individuals with amelogenesis imperfecta: a systematic review.

Appelstrand SB, Robertson A, Sabel N

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry 2022; (23(6)):885-895 doi:10.1007/s40368-022-00737-3.

Managing vertical dimensions in patients with Amelogenesis Imperfecta: A case report.

Farao W, Roomaney IA

Clinical case reports 2022; (10(8)):e6135 doi:10.1002/ccr3.6135.

Deep dental phenotyping and a novel FAM20A variant in patients with amelogenesis imperfecta type IG.

Sriwattanapong K, Theerapanon T, Khamwachirapitak C, et al.

Oral diseases 2024; (30(2)):537-550 doi:10.1111/odi.14510.

Role of Dental Professionals in the Management of a Dentigerous Cyst in a Patient With Amelogenesis Imperfecta.

Chinnakutti S, Rajaram Mohan K, Murugesan D, et al.

Cureus 2022; (14(12)):e32696 doi:10.7759/cureus.32696.

Novel WDR72 Mutations Causing Hypomaturation Amelogenesis Imperfecta.

Kim YJ, Zhang H, Lee Y, et al.

Journal of personalized medicine 2023; (13(2)) doi:10.3390/jpm13020326.

Molecular-based phenotype variations in amelogenesis imperfecta.

Dong J, Ruan W, Duan X

Oral diseases 2023; (29(6)):2334-2365 doi:10.1111/odi.14599.

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop's classification.

Bloch-Zupan A, Rey T, Jimenez-Armijo A, et al.

Frontiers in physiology 2023; (14()):1130175 doi:10.3389/fphys.2023.1130175.

Craniofacial Cephalometric Characteristics and Open Bite Deformity in Individuals with Amelogenesis Imperfecta-A Systematic Review and Meta-Analysis.

Messaoudi Y, Kiliaridis S, Antonarakis GS

Journal of clinical medicine 2023; (12(11)) doi:10.3390/jcm12113826.

Epileptic encephalopathy and amelogenesis imperfecta: What about KohlschüttereTönz syndrome? Case report and literature review.

Chalbi M, Nefzaoui M, Rhaiem M, et al.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry 2024; (44(2)):465-471 doi:10.1111/scd.12897.

[IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA].

Hadid Y, Daher Z, Mahroum M, et al.

Harefuah 2023; (162(6)):352-358.

[Analysis of amelogenesis imperfecta with abnormal tooth eruption caused by FAM83H mutation].

Mao SY, Duan XH

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology 2023; (58(9)):933-937 doi:10.3760/cma.j.cn112144-20230318-00094.

Dental and jawbone abnormalities linked to amelogenesis imperfecta: A retrospective and analytic study comparing panoramic radiographs.

Kammoun R, Ghoul S, Chaabani I, et al.

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry 2024; (44(3)):878-885 doi:10.1111/scd.12935.

How to optimize bonding procedures on healthy and hypomineralized enamel in orthodontics?

Dursun E, Attal JP

L' Orthodontie francaise 2023; (94(3-4)):477-483 doi:10.1684/orthodfr.2023.137.

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.

Zhang Z, Zou X, Feng L, et al.

BMC oral health 2023; (23(1)):893 doi:10.1186/s12903-023-03508-8.

Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes.

Hany U, Watson CM, Liu L, et al.

Journal of dental research 2024; (103(1)):22-30 doi:10.1177/00220345231203694.

Prosthodontic rehabilitation of two siblings with hypoplastic (type 1) amelogenesis imperfecta: A case report.

Wang CI, Sinada N

Heliyon 2024; (10(1)):e23939 doi:10.1016/j.heliyon.2023.e23939.

Dental treatment approaches of amelogenesis imperfecta in children and young adults: A systematic review of the literature.

Rhaiem M, Chalbi M, Bousaid S, et al.

Journal of esthetic and restorative dentistry : official publication of the American Academy of Esthetic Dentistry ... [et al.] 2024; (36(6)):881-891 doi:10.1111/jerd.13191.

Establishment of a clinical network for children with amelogenesis imperfecta and dentinogenesis imperfecta in the UK: 4-year experience.

Monteiro J, Balmer R, Lafferty F, et al.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry 2024; (25(1)):85-91 doi:10.1007/s40368-023-00859-2.

ENAM Mutations Can Cause Hypomaturation Amelogenesis Imperfecta.

Wang YL, Lin HC, Liang T, et al.

Journal of dental research 2024; (103(6)):662-671 doi:10.1177/00220345241236695.

Advances in clinical diagnosis and management of amelogenesis imperfecta in children and adolescents.

Pousette Lundgren G, Dahllöf G

Journal of dentistry 2024; (147()):105149 doi:10.1016/j.jdent.2024.105149.

Mini-implant assisted palate expansion and digital design in junctional epidermolysis bullosa and amelogenesis imperfecta: Case report.

Véliz S, Olivares A, Krämer S

Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry 2024; (44(6)):1572-1580 doi:10.1111/scd.13044.

Orthodontic management of amelogenesis imperfecta: A case report.

Jha K, Adhikari M, Shrestha S, Pandey A

Clinical case reports 2024; (12(8)):e9329 doi:10.1002/ccr3.9329.

Developmental Defects of Enamel.

Martins DDS, Ionta FQ, Pompermaier Garlet G, et al.

Monographs in oral science 2024; (32()):10-34 doi:10.1159/000538850.

Full-mouth rehabilitation with lithium disilicate ceramic crowns in hypoplastic amelogenesis imperfecta: a case report and review of literature.

Chen R, Lin Y, Sun Y, et al.

BMC oral health 2024; (24(1)):1139 doi:10.1186/s12903-024-04929-9.

Amelogenesis imperfecta: Analysis of the genetic basis and treatment with a digital workflow: A clinical report.

Klein P, Hoppe JS, Bramswig NC, Gierthmuehlen PC

The Journal of prosthetic dentistry 2025; (133(6)):1387-1396 doi:10.1016/j.prosdent.2024.09.032.

Surgical, orthodontic, and prosthetic management of amelogenesis imperfecta associated with severe open bite: a case report.

Labidi A, Bekri S, Mabrouk Y, et al.

Journal of medicine and life 2024; (17(10)):956-962 doi:10.25122/jml-2024-0259.

Enamel renal gingival syndrome in Indian scenario: A systematic review.

Koul R, Chengappa D, Devashish , et al.

Medical journal, Armed Forces India 2025; (81(1)):15-24 doi:10.1016/j.mjafi.2024.09.003.

[Genetic analysis and multidisciplinary treatment of a pedigree affected with autosomal dominant hypocalcified amelogenesis imperfecta].

Cui MJ, Chai L, Zhai QL, et al.

Shanghai kou qiang yi xue = Shanghai journal of stomatology 2025; (34(1)):59-67.

Treatment of a class III patient with maxillary retrognathia and amelogenesis imperfecta using a surgery-only orthognathic approach.

Çiftçi S, Şimşek MS, Özden S

Journal of stomatology, oral and maxillofacial surgery 2025; (126(4S)):102409 doi:10.1016/j.jormas.2025.102409.

Oral rehabilitation with reestablishment of occlusal vertical dimension and PMMA crowns in a patient with amelogenesis imperfecta: A clinical report.

Gomes RD, da Ressurreição YTS, Iegami CM, Mukai MK

The Journal of prosthetic dentistry 2025; doi:10.1016/j.prosdent.2025.06.034.

Esthetic Rehabilitation of a Patient With Amelogenesis Imperfecta Using the Composite Injection Moulding Technique: A Case Report.

El Mesbahi N, Hachami I, Jouhadi EM, Moussaoui H

Cureus 2025; (17(7)):e87507 doi:10.7759/cureus.87507.

WDR72 Gene Variant Associated With Distal Renal Tubular Acidosis, Enuresis, Enamel Hypoplasia, Renal Cysts, and Renal Calculi: A Case Report.

Al-Omairi A, Alabbas A, Makki T, et al.

Cureus 2025; (17(7)):e87894 doi:10.7759/cureus.87894.

Early Ceramic Crown Intervention in Adolescents With Severe Amelogenesis Imperfecta: A Clinical Case Series.

Das R, Børstad E, Jullumstrø Feuerherm A, et al.

Clinical case reports 2025; (13(10)):e71202 doi:10.1002/ccr3.71202.

A UK-based consensus on clinical decision flowcharts for managing childhood amelogenesis imperfecta in the permanent dentition.

Lakhani S, Monteiro J, Agel M, et al.

European archives of paediatric dentistry : official journal of the European Academy of Paediatric Dentistry 2026; (27(1)):135-145 doi:10.1007/s40368-025-01127-1.

Craniofacial Radiographic Features in Amelogenesis Imperfecta: A Case-Control Study.

Chadli K, El Alloussi M, Zaoui F, Halimi A

Cureus 2025; (17(11)):e96417 doi:10.7759/cureus.96417.

When teeth and kidneys fail together: a case series of amelogenesis imperfecta-renal syndromes in childhood.

Nouir S, Boukadida R, Hannachi S, et al.

The Pan African medical journal 2025; (52()):51 doi:10.11604/pamj.2025.52.51.48681.

Full Mouth Rehabilitation with All-Ceramic Restorations in a Patient with Amelogenesis Imperfecta: A Case Report with 10-Year Follow-Up.

Kourtis S

Dentistry journal 2025; (13(12)) doi:10.3390/dj13120546.

Full-Mouth Reconstruction in Amelogenesis Imperfecta: A Case Report.

Marghalani AA

The American journal of case reports 2026; (27()):e951835 doi:10.12659/AJCR.951835.