{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T19:30:54Z","timestamp":1790623854383,"version":"4.1.0"},"reference-count":55,"publisher":"MDPI AG","issue":"12","license":[{"start":{"date-parts":[[2022,12,10]],"date-time":"2022-12-10T00:00:00Z","timestamp":1670630400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Deutsche Forschungsgemeinschaft and Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>To keep pace with the rapid advancements in molecular genetics and rare diseases research, we have updated the list of ectodermal dysplasias based on the latest classification approach that was adopted in 2017 by an international panel of experts. For this purpose, we searched the databases PubMed and OMIM for the term \u201cectodermal dysplasia\u201d, referring mainly to changes in the last 5 years. We also tried to obtain information about those diseases on which the last scientific report appeared more than 15 years ago by contacting the authors of the most recent publication. A group of experts, composed of researchers who attended the 8th International Conference on Ectodermal Dysplasias and additional members of the previous classification panel, reviewed the proposed amendments and agreed on a final table listing all 49 currently known ectodermal dysplasias for which the molecular genetic basis has been clarified, including 15 new entities. A newly reported ectodermal dysplasia, linked to the gene LRP6, is described here in more detail. These ectodermal dysplasias, in the strict sense, should be distinguished from syndromes with features of ectodermal dysplasia that are related to genes extraneous to the currently known pathways involved in ectodermal development. The latter group consists of 34 syndromes which had been placed on the previous list of ectodermal dysplasias, but most if not all of them could actually be classified elsewhere. This update should streamline the classification of ectodermal dysplasias, provide guidance to the correct diagnosis of rare disease entities, and facilitate the identification of individuals who could benefit from novel treatment options.<\/jats:p>","DOI":"10.3390\/genes13122327","type":"journal-article","created":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T03:02:37Z","timestamp":1670814157000},"page":"2327","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":56,"title":["Molecular Pathway-Based Classification of Ectodermal Dysplasias: First Five-Yearly Update"],"prefix":"10.3390","volume":"13","author":[{"given":"Nicolai","family":"Peschel","sequence":"first","affiliation":[{"name":"Center for Ectodermal Dysplasias, University Hospital Erlangen, 91054 Erlangen, Germany"},{"name":"Department of Pediatrics, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, 91054 Erlangen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John T.","family":"Wright","sequence":"additional","affiliation":[{"name":"Division of Pediatric and Public Health, University of North Carolina Adams School of Dentistry, Chapel Hill, NC 27514, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4448-8119","authenticated-orcid":false,"given":"Maranke I.","family":"Koster","sequence":"additional","affiliation":[{"name":"Department of Biochemistry and Molecular Biology, Brody School of Medicine at East Carolina University, Greenville, NC 27834, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1200-9286","authenticated-orcid":false,"given":"Angus J.","family":"Clarke","sequence":"additional","affiliation":[{"name":"Division of Cancer & Genetics, Institute of Medical Genetics, Cardiff University School of Medicine, Cardiff, CF10 3AT, UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Tadini","sequence":"additional","affiliation":[{"name":"Center for Inherited Cutaneous Diseases, University of Milan, 20122 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary","family":"Fete","sequence":"additional","affiliation":[{"name":"National Foundation for Ectodermal Dysplasias, Fairview Heights, IL 62208, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Smail","family":"Hadj-Rabia","sequence":"additional","affiliation":[{"name":"Department of Dermatology, Reference Centre for Genodermatoses and Rare Skin Disease (MAGEC), Hopital Universitaire Necker-Enfants Malades, Assistance Publique\u2014Hospitals of Paris, University of Paris-Cit\u00e9, 75743 Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia P.","family":"Sybert","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA 98195, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3123-753X","authenticated-orcid":false,"given":"Johanna","family":"Norderyd","sequence":"additional","affiliation":[{"name":"CHILD Research Group, J\u00f6nk\u00f6ping University, 55111 J\u00f6nk\u00f6ping, Sweden"},{"name":"National Oral Disability Centre for Rare Disorders, The Institute for Postgraduate Dental Education, 55453 J\u00f6nk\u00f6ping, Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sigrun","family":"Maier-Wohlfart","sequence":"additional","affiliation":[{"name":"Center for Ectodermal Dysplasias, University Hospital Erlangen, 91054 Erlangen, Germany"},{"name":"Department of Pediatrics, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, 91054 Erlangen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7332-0430","authenticated-orcid":false,"given":"Timothy J.","family":"Fete","sequence":"additional","affiliation":[{"name":"Department of Child Health, University of Missouri, Columbia, MO 65211, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Pagnan","sequence":"additional","affiliation":[{"name":"Department of Genetics, Federal University of Parana, Curitiba 80060-000, PR, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atila F.","family":"Visinoni","sequence":"additional","affiliation":[{"name":"School of Health Sciences, Positivo University, Curitiba 81290-000, PR, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Holm","family":"Schneider","sequence":"additional","affiliation":[{"name":"Center for Ectodermal Dysplasias, University Hospital Erlangen, 91054 Erlangen, Germany"},{"name":"Department of Pediatrics, Friedrich-Alexander-Universit\u00e4t Erlangen-N\u00fcrnberg, 91054 Erlangen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,12,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1159\/000152876","article-title":"Nosologic groups. An overview","volume":"27","year":"1977","journal-title":"Hum. Hered."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"2415","DOI":"10.1002\/ajmg.a.36616","article-title":"Update on ectodermal dysplasias clinical classification","volume":"164A","author":"Pagnan","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1002\/ajmg.a.61045","article-title":"Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway","volume":"179","author":"Wright","year":"2019","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"2472","DOI":"10.1002\/ajmg.a.36550","article-title":"Etiology and pathogenesis of ectodermal dysplasias","volume":"164A","author":"Itin","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1016\/j.ejmg.2013.01.012","article-title":"The prevalence of X-linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995\u20132010","volume":"56","author":"Skovbo","year":"2013","journal-title":"Eur. J. Med. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1038\/ng0895-409","article-title":"X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein","volume":"13","author":"Kere","year":"1996","journal-title":"Nat. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1002\/humu.21384","article-title":"Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic\/anhidrotic ectodermal dysplasia cases","volume":"32","author":"Cluzeau","year":"2011","journal-title":"Hum. Mutat."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1038\/414913a","article-title":"Gene defect in ectodermal dysplasia implicates a death domain adapter in development","volume":"414","author":"Headon","year":"2001","journal-title":"Nature"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1056\/NEJMoa1714322","article-title":"Prenatal correction of X-linked hypohidrotic ectodermal dysplasia","volume":"378","author":"Schneider","year":"2018","journal-title":"N. Engl. J. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1273","DOI":"10.14219\/jada.archive.2005.0343","article-title":"A costs analysis of dental treatment for ectodermal dysplasia","volume":"136","author":"Murdock","year":"2005","journal-title":"J. Am. Dent. Assoc."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1111\/1346-8138.16044","article-title":"Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia","volume":"48","author":"Asano","year":"2021","journal-title":"J. Dermatol."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"629","DOI":"10.1111\/bjd.12018","article-title":"Functional studies for the TRAF6 mutation associated with hypohidrotic ectodermal dysplasia","volume":"168","author":"Fujikawa","year":"2013","journal-title":"Br. J. Dermatol."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"595","DOI":"10.1111\/cge.13714","article-title":"LEF1 haploinsufficiency causes ectodermal dysplasia","volume":"97","author":"Capri","year":"2020","journal-title":"Clin. Genet."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1708","DOI":"10.1016\/j.gim.2022.04.022","article-title":"Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling","volume":"24","author":"Dufour","year":"2022","journal-title":"Genet. Med."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1177\/0022034520970459","article-title":"Lrp6 dynamic expression in tooth development and mutations in oligodontia","volume":"100","author":"Yu","year":"2021","journal-title":"J. Dent. Res."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Massey, H., House, J., and Tipton, M. (2019). Thermoregulation in ectodermal dysplasia: A case series. Int. J. Environ. Res. Public Health, 16.","DOI":"10.3390\/ijerph16224514"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/j.earlhumdev.2010.04.008","article-title":"Prevalence and prevention of severe complications of hypohidrotic ectodermal dysplasia in infancy","volume":"86","author":"Schneider","year":"2010","journal-title":"Early Hum. Dev."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"302","DOI":"10.1007\/BF01652699","article-title":"Ein neues Verfahren zu der klinischen Untersuchung der Schwei\u00dfabsonderung","volume":"101","author":"Minor","year":"1928","journal-title":"Deutsch. Z. Nervenheilkd."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1136\/jmg.2010.084012","article-title":"Sweating ability and genotype in individuals with X-linked hypohidrotic ectodermal dysplasia","volume":"48","author":"Schneider","year":"2011","journal-title":"J. Med. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"884","DOI":"10.3109\/02713683.2014.967869","article-title":"Diagnosis of X-linked hypohidrotic ectodermal dysplasia by meibography and infrared thermography of the eye","volume":"40","author":"Kaercher","year":"2015","journal-title":"Curr. Eye Res."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"605","DOI":"10.17219\/acem\/37235","article-title":"Ophthalmic manifestations in patients with ectodermal dysplasia syndromes","volume":"23","author":"Keklikci","year":"2014","journal-title":"Adv. Clin. Exp. Med."},{"key":"ref_22","unstructured":"Semmler, M., Kniesburges, S., Pelka, F., Ensthaler, M., Wendler, O., and Sch\u00fctzenberger, A. (2021). Influence of reduced saliva production on phonation in patients with ectodermal dysplasia. J. Voice, in press."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1034\/j.1600-0722.2003.00058.x","article-title":"Salivary gland function in persons with ectodermal dysplasias","volume":"111","author":"Nordgarden","year":"2003","journal-title":"Eur. J. Oral Sci."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1055\/s-0043-100106","article-title":"Hypohidrotic ectodermal dysplasia: Breastfeeding complications due to impaired breast development","volume":"77","author":"Faschingbauer","year":"2017","journal-title":"Geburtshilfe Frauenheilkd."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1111\/1346-8138.16204","article-title":"Update of recent findings in genetic hair disorders","volume":"49","author":"Hayashi","year":"2022","journal-title":"J. Dermatol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1111\/pde.14415","article-title":"Clinical, trichoscopy, and light microscopic findings in hypohidrotic ectodermal dysplasia: Report of 21 patients and a review of the literature","volume":"38","year":"2021","journal-title":"Pediatr. Dermatol."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"836","DOI":"10.1111\/pde.12674","article-title":"Scanning electron microscopic hair shaft analysis in ectodermal dysplasia syndromes","volume":"32","author":"Reed","year":"2015","journal-title":"Pediatr. Dermatol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"2465","DOI":"10.1002\/ajmg.a.36571","article-title":"Orodental manifestations in ectodermal dysplasia-a review","volume":"164A","author":"Bergendal","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1034\/j.1399-0004.1999.550105.x","article-title":"Tricho-dento-osseous syndrome and amelogenesis imperfecta with taurodontism are genetically distinct conditions","volume":"56","author":"Price","year":"1999","journal-title":"Clin. Genet."},{"key":"ref_30","first-page":"451","article-title":"Ectodermal dysplasias: A clinical and molecular review","volume":"104","author":"Torrelo","year":"2013","journal-title":"Actas Dermo-Sifiliogr. (English Edition)"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1980","DOI":"10.1002\/ajmg.a.32864","article-title":"Ectodermal dysplasias: Clinical and molecular review","volume":"149A","author":"Visinoni","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1242\/dev.006718","article-title":"P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle","volume":"135","author":"Shimomura","year":"2008","journal-title":"Development"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"891","DOI":"10.1038\/jhg.2016.75","article-title":"Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements","volume":"61","author":"Wohlfart","year":"2016","journal-title":"J. Hum. Genet."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"1105","DOI":"10.1111\/bjd.20601","article-title":"WNT10A, dermatology and dentistry","volume":"185","author":"Doolan","year":"2021","journal-title":"Br. J. Dermatol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"2079","DOI":"10.1093\/hmg\/8.11.2079","article-title":"Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells","volume":"8","author":"Ezer","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"3751","DOI":"10.1093\/hmg\/ddi405","article-title":"TAB2, TRAF6 and TAK1 are involved in NF-kappaB activation induced by the TNF-receptor, Edar and its adaptator Edaradd","volume":"14","author":"Morlon","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1038\/nature01803","article-title":"CYLD is a deubiquitinating enzyme that negatively regulates NF-kappaB activation by TNFR family members","volume":"424","author":"Trompouki","year":"2003","journal-title":"Nature"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1016\/j.bbrc.2015.08.019","article-title":"XEDAR activates the non-canonical NF-\u03baB pathway","volume":"465","author":"Verhelst","year":"2015","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"646","DOI":"10.1111\/odi.12931","article-title":"Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis","volume":"25","author":"Yu","year":"2019","journal-title":"Oral Dis."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"2352","DOI":"10.1038\/jid.2010.119","article-title":"p63 in skin development and ectodermal dysplasias","volume":"130","author":"Koster","year":"2010","journal-title":"J. Investig. Dermatol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/j.ajhg.2011.11.013","article-title":"Exome sequence identifies RIPK4 as the Bartsocas-Papas syndrome locus","volume":"90","author":"Mitchell","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"3490","DOI":"10.1016\/j.celrep.2018.11.039","article-title":"Mutant p63 affects epidermal cell identity through rewiring the enhancer landscape","volume":"25","author":"Qu","year":"2018","journal-title":"Cell Rep."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/s40246-021-00374-9","article-title":"Update of the keratin gene family: Evolution, tissue-specific expression patterns, and relevance to clinical disorders","volume":"16","author":"Ho","year":"2022","journal-title":"Hum. Genom."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1111\/j.1365-2133.2011.10640.x","article-title":"Desmosomal genodermatoses","volume":"166","author":"Petrof","year":"2012","journal-title":"Br. J. Dermatol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1111\/ced.12654","article-title":"Novel mutations in GJB6 and GJB2 in Clouston syndrome","volume":"40","author":"Liu","year":"2015","journal-title":"Clin. Exp. Dermatol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1016\/S0022-3476(51)80108-2","article-title":"Major hereditary ectodermal dysplasia","volume":"38","author":"Ellingson","year":"1951","journal-title":"J. Pediatr."},{"key":"ref_47","doi-asserted-by":"crossref","unstructured":"Peled, A., Sarig, O., Samuelov, L., Bertolini, M., Ziv, L., Weissglas-Volkov, D., Eskin-Schwartz, M., Adase, C.A., Malchin, N., and Bochner, R. (2016). Mutations in TSPEAR, encoding a regulator of Notch signaling, affect tooth and hair follicle morphogenesis. PLoS Genet., 12.","DOI":"10.1371\/journal.pgen.1006369"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"2417","DOI":"10.1002\/ajmg.a.62347","article-title":"TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study","volume":"185","author":"Bowles","year":"2021","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1016\/j.ajhg.2012.08.029","article-title":"Loss-of-function mutations in HOXC13 cause pure hair and nail ectodermal dysplasia","volume":"91","author":"Lin","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1559","DOI":"10.1038\/s41436-018-0355-3","article-title":"Deficiency of the human cysteine protease inhibitor cystatin M\/E causes hypotrichosis and dry skin","volume":"21","author":"Jansen","year":"2019","journal-title":"Genet. Med."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1038\/35035110","article-title":"arrow encodes an LDL-receptor-related protein essential for Wingless signalling","volume":"407","author":"Wehrli","year":"2000","journal-title":"Nature"},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/S1097-2765(03)00484-2","article-title":"A mechanism for Wnt coreceptor activation","volume":"13","author":"Tamai","year":"2004","journal-title":"Mol. Cell"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1038\/cr.2012.91","article-title":"A finger on the pulse of Wnt receptor signaling","volume":"22","author":"MacDonald","year":"2012","journal-title":"Cell Res."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"1158","DOI":"10.1038\/gim.2016.10","article-title":"Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis","volume":"18","author":"Ockeloen","year":"2016","journal-title":"Genet. Med."},{"key":"ref_55","doi-asserted-by":"crossref","unstructured":"Lee, Y., Chae, W., Kim, Y.J., and Kim, J.-W. (2022). Novel LRP6 mutations causing non-syndromic oligodontia. J. Pers. Med., 12.","DOI":"10.3390\/jpm12091401"}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/12\/2327\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:37:45Z","timestamp":1760146665000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/13\/12\/2327"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,12,10]]},"references-count":55,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2022,12]]}},"alternative-id":["genes13122327"],"URL":"https:\/\/doi.org\/10.3390\/genes13122327","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,12,10]]}}}