Main genetic entities associated with tooth agenesis

Familial adenomatous polyposis

Half, E., Bercovich, D., & Rozen, P. (2009) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-4-22 · Cited by 597 · see citing works

Familial Adenomatous Polyposis Syndrome: An Update and Review of Extraintestinal Manifestations

Dinarvand, P., Davaro, E. P., Doan, J. V., Ising, M. E., Evans, N. R., Phillips, N. J., Lai, J., & Guzmán, M. A. (2019) · Archives of Pathology & Laboratory Medicine · doi:10.5858/arpa.2018-0570-ra · Cited by 225 · see citing works

Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.

Wright, J. T., Fete, M., Schneider, H., Zinser, M., Koster, M. I., Clarke, A. J., Hadj‐Rabia, S., Tadini, G., Pagnan, N., Visinoni, A. F., et al. (2019) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61045 · Cited by 185 · see citing works

Axenfeld‐Rieger syndrome

Seifi, M., & Walter, M. A. (2017) · Clinical Genetics · doi:10.1111/cge.13148 · Cited by 163 · see citing works

MSX1 Gene is Deleted in Wolf-Hirschhorn Syndrome Patients with Oligodontia

Nieminen, P., Kotilainen, J., Aalto, Y., Knuutila, S., Pirinen, S., & Thesleff, I. (2003) · Journal of Dental Research · doi:10.1177/154405910308201215 · Cited by 98 · see citing works

Axenfeld-Rieger syndrome: more than meets the eye

Reis, L. M., Maheshwari, M., Capasso, J. E., Atilla, H., Ďuďáková, Ľ., Thompson, S., Zitano, L., Guillermo Lay-Son, R., Lowry, R. B., Black, J., et al. (2022) · Journal of Medical Genetics · doi:10.1136/jmg-2022-108646 · Cited by 80 · see citing works

Incontinentia Pigmenti: A Summary Review of This Rare Ectodermal Dysplasia With Neurologic Manifestations, Including Treatment Protocols

Greene-Roethke, C. (2017) · Journal of Pediatric Health Care · doi:10.1016/j.pedhc.2017.07.003 · Cited by 68 · see citing works

Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis

Dinçkan, N., Du, R., Petty, L. E., Coban‐Akdemir, Z., Jhangiani, S. N., Paine, I. S., Baugh, E. H., Erdem, A. P., Kayserili, H., Doddapaneni, H., et al. (2017) · Journal of Dental Research · doi:10.1177/0022034517724149 · Cited by 65 · see citing works

The Changing Landscape in the Genetic Etiology of Human Tooth Agenesis

Williams, M. A., & Letra, A. (2018) · Genes · doi:10.3390/genes9050255 · Cited by 59 · see citing works

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Paradowska-Stolarz, A. M. (2014) · Advances in Clinical and Experimental Medicine · doi:10.17219/acem/24111 · Cited by 58 · see citing works

The WNT10A gene in ectodermal dysplasias and selective tooth agenesis

MUES, G. I., Bonds, J., Xiang, L., Vieira, A. R., Seymen, F., Klein, O. D., & D’Souza, R. N. (2014) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36520 · Cited by 54 · see citing works

Schöpf-Schulz-Passarge Syndrome: Further Delineation of the Phenotype and Genetic Considerations

Castori, M., Ruggieri, S., Giannetti, L., Annessi, G., & Zambruno, G. (2008) · Acta Dermato-Venereologica · doi:10.2340/00015555-0547 · Cited by 53 · see citing works

Rare and Common Variants Conferring Risk of Tooth Agenesis

Jönsson, L., Magnusson, T. E., Thordarson, A., Jónsson, T., Geller, F., Feenstra, B., Melbye, M., Nohr, E. A., Vucic, S., Dhamo, B., et al. (2018) · Journal of Dental Research · doi:10.1177/0022034517750109 · Cited by 53 · see citing works

Down syndrome and congenital heart disease: perioperative planning and management

Delany, D. R., Gaydos, S. S., Romeo, D. A., Henderson, H., Fogg, K. L., McKeta, A. S., Kavarana, M. N., & Costello, J. M. (2021) · Journal of Congenital Cardiology · doi:10.1186/s40949-021-00061-3 · Cited by 50 · see citing works

Tooth agenesis: An overview of diagnosis, aetiology and management

Meade, M. J., & Dreyer, C. W. (2023) · Japanese Dental Science Review · doi:10.1016/j.jdsr.2023.07.001 · Cited by 50 · see citing works

Prevalence and patterns of permanent tooth agenesis in individuals with Down syndrome: a meta‐analysis

Palaska, P. K., & Antonarakis, G. S. (2016) · European Journal Of Oral Sciences · doi:10.1111/eos.12282 · Cited by 45 · see citing works

Prevalence and patterns of permanent tooth agenesis in Down syndrome and their association with craniofacial morphology

Suri, S., Tompson, B. D., & Atenafu, E. G. (2011) · The Angle Orthodontist · doi:10.2319/070910-391.1 · Cited by 44 · see citing works

EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population

Martínez‐Romero, M. D. C., Ballesta‐Martínez, M. J., López‐González, V., Sánchez-Soler, M. J., Serrano-Antón, A. T., Barreda‐Sánchez, M., Rodríguez-Peña, L., Martínez-Menchón, M. T., Frías-Iniesta, J., Sánchez‐Pedreño, P., et al. (2019) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-019-1251-x · Cited by 42 · see citing works

<i>Lrp6</i> Dynamic Expression in Tooth Development and Mutations in Oligodontia

Yu, M., Fan, Z., Wong, S. W., Sun, K., Zhang, L., Liu, H., Feng, H., Liu, Y., & Han, D. (2021) · Journal of Dental Research · doi:10.1177/0022034520970459 · Cited by 41 · see citing works

WNT10B mutations associated with isolated dental anomalies

Kantaputra, P. N., Hutsadaloi, A., Kaewgahya, M., Intachai, W., German, R. J., Koparal, M., Leethanakul, C., Tolun, A., & Cairns, J. R. K. (2018) · Clinical Genetics · doi:10.1111/cge.13218 · Cited by 40 · see citing works

Diagnosis of Tooth Agenesis in Childhood and Risk for Neoplasms in Adulthood

Ritwik, P., & Patterson, K. K. (2018) · Ochsner Journal · doi:10.31486/toj.18.0060 · Cited by 38 · see citing works

Distinct impacts of bi‐allelic WNT10A mutations on the permanent and primary dentitions in odonto‐onycho‐dermal dysplasia

Yu, M., Liu, Y., Liu, H., Wong, S., He, H., Zhang, X., Wang, Y., Han, D. K., & Feng, H. (2018) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.60682 · Cited by 38 · see citing works

Clinical utility gene card: for incontinentia pigmenti

Fusco, F., Pescatore, A., Steffann, J., Bonnefont, J., Oliveira, J. D., Lioi, M. B., & Ursini, M. V. (2019) · European Journal of Human Genetics · doi:10.1038/s41431-019-0463-9 · Cited by 37 · see citing works

Odontoonychodermal dysplasia: A previously apparently undescribed ectodermal dysplasia

Fadhil, M., Ghabra, T. A., Deeb, M. E., Kaloustian, V. M. D., & Opitz, J. M. (1983) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320140213 · Cited by 37 · see citing works

Non-syndromic Tooth Agenesis Associated with a Nonsense Mutation in Ectodysplasin-A (EDA)

Nikopensius, T., Annilo, T., Jagomägi, T., Gilissen, C., Kals, M., Krjutškov, K., Mägi, R., Eelmets, M., Gerst-Talas, U., Remm, M., et al. (2013) · Journal of Dental Research · doi:10.1177/0022034513487210 · Cited by 35 · see citing works

Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations

Parveen, A., Khan, S. A., Mirza, M. U., Bashir, H., Arshad, F., Iqbal, M., Ahmad, W., Wahab, A., Fiaz, A., Naz, S., et al. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20215282 · Cited by 30 · see citing works

Incontinencia pigmenti

Cammarata‐Scalisi, F., Fusco, F., & Ursini, M. V. (2019) · Actas Dermo-Sifiliográficas · doi:10.1016/j.ad.2018.10.004 · Cited by 30 · see citing works

The Human Genetics of Dental Anomalies

Khan, M. I., Ahmed, N., Neela, P. K., & Unnisa, N. (2022) · Global Medical Genetics · doi:10.1055/s-0042-1743572 · Cited by 29 · see citing works

Patterns of tooth agenesis in patients with Down syndrome in relation to hypothyroidism and congenital heart disease: An aid for treatment planning

Reuland-Bosma, W., Reuland, M. C., Bronkhorst, E. M., & Phoa, K. H. (2010) · American Journal of Orthodontics and Dentofacial Orthopedics · doi:10.1016/j.ajodo.2009.10.032 · Cited by 25 · see citing works

Gene mutations and chromosomal abnormalities in syndromes with tooth agenesis

Lan, R., Wu, Y., Dai, Q., & Wang, F. (2022) · Oral Diseases · doi:10.1111/odi.14402 · Cited by 25 · see citing works

Colorectal Cancer-Associated Genes Are Associated with Tooth Agenesis and May Have a Role in Tooth Development

Williams, M. A., Biguetti, C. C., Romero‐Bustillos, M., Maheshwari, K., Dinçkan, N., Cavalla, F., Liu, X., Silva, R. M., Akyalçın, S., Uyguner, Z. O., et al. (2018) · Scientific Reports · doi:10.1038/s41598-018-21368-z · Cited by 22 · see citing works

COVID‐19 and Down syndrome

Callea, M., Cammarata‐Scalisi, F., Galeotti, A., Villani, A., & Valentini, D. (2020) · Acta Paediatrica · doi:10.1111/apa.15409 · Cited by 22 · see citing works

Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis

Andreoni, F., Sgattoni, C., Bencardino, D., Simonetti, O., Forabosco, A., & Magnani, M. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1555 · Cited by 19 · see citing works

Alternative Genetic Diagnoses in Axenfeld–Rieger Syndrome Spectrum

Reis, L. M., Amor, D. J., Haddad, R. A., Nowak, C. B., Keppler‐Noreuil, K. M., Chisholm, S. A. M., & Semina, E. V. (2023) · Genes · doi:10.3390/genes14101948 · Cited by 17 · see citing works

Odonto-onycho-dermal dysplasia in a patient homozygous for a WNT10A nonsense mutation and mild manifestations of ectodermal dysplasia in carriers of the mutation

Krøigård, A. B., Clemmensen, O. J., Gjørup, H., Hertz, J. M., & Bygum, A. (2016) · BMC Dermatology · doi:10.1186/s12895-016-0040-7 · Cited by 15 · see citing works

Expanding the genetic spectrum of tooth agenesis using whole‐exome sequencing

Yu, K., Dou, J., Huang, W., Wang, F., & Wu, Y. (2022) · Clinical Genetics · doi:10.1111/cge.14225 · Cited by 15 · see citing works

WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI)

Guazzarotti, L., Tadini, G., Mancini, G. E., Sani, I., Pisanelli, S., Galderisi, F., D’Auria, E., Secondi, R., Bottero, A., & Zuccotti, G. (2017) · Clinical Genetics · doi:10.1111/cge.13147 · Cited by 14 · see citing works

Panoramic radiographs and dental patients with Down syndrome: A scoping review

Scott, A. M., Reed, W. M., Ajwani, S., & Parmenter, T. R. (2022) · Special Care in Dentistry · doi:10.1111/scd.12762 · Cited by 14 · see citing works

Familial colorectal cancer and tooth agenesis caused by an AXIN2 variant: how do we detect families with rare cancer predisposition syndromes?

Jensen, J. M., Skakkebaek, A. H., Gaustadnes, M., Sommerlund, M., Gjørup, H., Ljungmann, K., Lautrup, C. K., & Sunde, L. (2021) · Familial Cancer · doi:10.1007/s10689-021-00280-y · Cited by 12 · see citing works

A novel EDAR missense mutation identified by whole‐exome sequencing with non‐syndromic tooth agenesis in a Chinese family

Zhang, H., Kong, X., Ren, J., Yuan, S., Liu, C., Hou, Y., Liu, Y., Meng, L., Zhang, G., Du, Q., et al. (2021) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1684 · Cited by 11 · see citing works

Axenfeld–Rieger syndrome in the pediatric population: A review

Khandwala, N. S., Ramappa, M., Edward, D. P., & Mocan, M. C. (2023) · Taiwan Journal of Ophthalmology · doi:10.4103/tjo.tjo-d-23-00089 · Cited by 11 · see citing works

A novel inhibitor of nuclear factor kappa-B kinase subunit gamma mutation identified in an incontinentia pigmenti patient with syndromic tooth agenesis.

Sun, S., Li, F., Liu, Y., Qu, H., Wong, S., Zeng, L., Yu, M., Feng, H., Liu, H.-C., & Han, D. (2019) · Archives of Oral Biology · doi:10.1016/j.archoralbio.2019.03.013 · Cited by 10 · see citing works

Dental age, agenesis, and morphological anomalies in individuals with Van der Woude syndrome and isolated cleft palate

Awadh, W., Pegelow, M., Heliövaara, A., & Rice, D. P. C. (2020) · European Journal of Orthodontics · doi:10.1093/ejo/cjaa082 · Cited by 9 · see citing works

Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia

Pan, Y., Yi, S., Chen, D., Du, X., Yao, X., He, F., & Xiong, F. (2022) · Clinical Oral Investigations · doi:10.1007/s00784-022-04485-y · Cited by 9 · see citing works

Mutation analysis in patients with nonsyndromic tooth agenesis using exome sequencing

Yue, H., Liang, J., Song, G., Cheng, J., Li, J., Zhi, Y., Bian, Z., & He, M. (2022) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2045 · Cited by 8 · see citing works

Witkop's syndrome: A case report

Arora, V., Agrawal, K. K., Mishra, A., & Chandra, A. (2015) · Journal of Oral Biology and Craniofacial Research · doi:10.1016/j.jobcr.2015.07.003 · Cited by 7 · see citing works

Novel EDAR mutation in tooth agenesis and variable associated features

Mumtaz, S., Nalbant, G., Bölükbaşı, E. Y., Huma, Z., Ahmad, N., Tolun, A., & Malik, S. (2020) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2020.103926 · Cited by 7 · see citing works

Autosomal dominant mutation of MSX1 gene causing tooth and nail syndrome

Najmuddin, M., Saheb, S. A. K., Alharbi, A. N., Alsobil, F. M. A., Jhugroo, C., Khan, A. A., Divakar, D. D., Naik, S., & Khanagar, S. B. (2020) · Pan African Medical Journal · doi:10.11604/pamj.2020.36.229.23019 · Cited by 7 · see citing works

WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer

Bielik, P., Bonczek, O., Krejčí, P., Zeman, T., Hollá, L. I., Šoukalová, J., Vaněk, J., Vojtěšek, B., Lochman, J., Balcar, V. J., et al. (2022) · Clinical Oral Investigations · doi:10.1007/s00784-022-04664-x · Cited by 6 · see citing works

Rieger Syndrome: Rehabilitation With Dental Implants

Pirih, F. Q. M., Casarin, M., Perussolo, J., Ozaki, M., Carnio, J., Camargo, P. M., & Galvan, M. (2019) · Clinical Advances in Periodontics · doi:10.1002/cap.10065 · Cited by 5 · see citing works

Genodermatoses with teeth abnormalities

Khalil, S., Eid, E. S., Hamieh, L., Bardawil, T., Moujaes, Z., Khalil, W., Abbas, O. M., & Kurban, M. (2020) · Oral Diseases · doi:10.1111/odi.13295 · Cited by 5 · see citing works

Popliteal Pterygium With Van Der Woude Syndrome

Dobs, M., Ghamry, M. A., Anvekar, P., Lohana, P. J. D., & Ali, S. R. (2021) · Cureus · doi:10.7759/cureus.16573 · Cited by 5 · see citing works

Novel LRP6 Mutations Causing Non-Syndromic Oligodontia

Lee, Y., Chae, W., Kim, Y. J., & Kim, J.-W. (2022) · Journal of Personalized Medicine · doi:10.3390/jpm12091401 · Cited by 4 · see citing works

Axenfeld-Rieger syndrome

Balasubramanian, S., & Weerakkody, Y. (2024) · Radiopaedia.org · doi:10.53347/rid-187400 · Cited by 4 · see citing works

Rare and Multiple Hypodontia in Van der Woude Syndrome: Case Report

Trevizan, A. C. D. S., Gonçales, A. G. B., Pagin, B. S. C., Pagin, O., & das Neves, L. T. (2021) · The Cleft Palate-Craniofacial Journal · doi:10.1177/10556656211058265 · Cited by 3 · see citing works

Two Novel Mutations in Ectodysplasin-A Identified in Syndromic Tooth Agenesis

Xie, W., Zeng, B., Li, P., Xu, D., Yu, D., & Zhao, W. (2022) · Journal of College of Physicians And Surgeons Pakistan · doi:10.29271/jcpsp.2022.05.570 · Cited by 3 · see citing works

Genetics of tooth agenesis: how to move the field forward

Vieira, A. R. (2013) · Journal of Applied Oral Science · doi:10.1590/1678-77572013ed003 · Cited by 2 · see citing works

Estudio clínico y molecular en un escolar con displasia ectodérmica hipohidrótica ligada al X

Callea, M., Yavuz, İ., Clarich, G., & Cammarata‐Scalisi, F. (2015) · Archivos Argentinos de Pediatria · doi:10.5546/aap.2015.e341 · Cited by 2 · see citing works

Surgical and prosthetic rehabilitation of siblings with Witkop tooth and nail syndrome using zygomatic implants: a familial case series of 3 patients with up to 15-year follow-up

McMillan, K. B., McMillan, D. C., Arce, K., & Salinas, T. J. (2022) · Oral and Maxillofacial Surgery · doi:10.1007/s10006-022-01107-5 · Cited by 2 · see citing works

Functional Analysis of Ectodysplasin-A Mutations in X-Linked Non-Syndromic Hypodontia and Possible Involvement of X-Chromosome InactivationPreprint

Pan, Y., Lu, T., Peng, L., Zeng, Q., Huang, X., Yao, X., Wu, B., & Xiong, F. (2021) · Research Square · doi:10.21203/rs.3.rs-270895/v1 · Cited by 1 · see citing works

Dissecting the Genetic Contribution of Tooth Agenesis

Fallea, A., Vinci, M., L’Episcopo, S., Bartolone, M., Musumeci, A., Ragalmuto, A., Treccarichi, S., & Calı̀, F. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms262110485 · Cited by 9 · see citing works

Familial Tooth Agenesis in Lebanese Patients: Clinical Characterization and Whole-Exome Identification of Rare CACNA2D2 and TRIO Variants

Nabbout, F., Hajj, J. E., Badran, B. M., & Ghassibe, M. (2026) · Cureus · doi:10.7759/cureus.108369 · Cited by 2 · see citing works

Identification of a Novel EVC2 Variant in a Family with Non-Syndromic Tooth Agenesis and Its Potential Functional Implications

Yan, C., Li, J., Zhang, C., Liu, Y., Wang, X., & Zheng, S. (2025) · Genes · doi:10.3390/genes16111288 · Cited by 1 · see citing works

Ion Channel–Rho GTPase Coupling in Human Odontogenesis: Integrative Structural and Network Dissection of TRIO and CACNA2D2 Variants From Familial Tooth Agenesis

Nabbout, F., Sabbagh, J., Hajj, J. E., & Ghassibe, M. (2026) · Cureus · doi:10.7759/cureus.109624 · Cited by 1 · see citing works

Implant-supported fixed prosthodontic treatment for ectodermal dysplasia: a case report

Wang, Y., Chen, S., & Zhou, Y. (2026) · BMC Oral Health · doi:10.1186/s12903-026-08326-2

Prof. Dr. Giovanni De Toni—Editorial for the Commemoration of a Pediatric Luminary

Sergi, C. M., Ravelli, A., & Pio, L. (2025) · International Journal of Molecular Sciences · doi:10.3390/ijms26073198

Tooth agenesis: genes and syndromic diseases –literature review

Klupś, D., Kaźmierczak, J., & Torlińska-Walkowiak, N. (2022) · Journal of Pre-Clinical and Clinical Research · doi:10.26444/jpccr/157097 · Cited by 3 · see citing works

Genetic Aspects of Tooth Agenesis

Modafferi, C., Tucci, I., Bogliardi, F. M., Gimondo, E., Chiurazzi, P., Tabolacci, E., & Grippaudo, C. (2025) · Genes · doi:10.3390/genes16050582 · Cited by 12 · see citing works

Tooth Agenesis; Aetiological Factors

Azzaldeen, Α., Watted, N., Mai, A., Borbély, P., & Muhamad, A.-H. (2017) · IOSR Journal of Dental and Medical Sciences · doi:10.9790/0853-1601057585 · Cited by 22 · see citing works

[Research progress on gene involved in tooth agenesis].

Li, L., Zhang, B., & Zhao, Z. (2013) · PubMed · Cited by 1 · see citing works

Oral Clefts and Syndromic Forms of Tooth Agenesis as Models for Genetics of Isolated Tooth Agenesis

Vieira, A. (2003) · Journal of Dental Research · doi:10.1177/154405910308200303 · Cited by 119 · see citing works