{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T01:02:47Z","timestamp":1760144567820,"version":"build-2065373602"},"reference-count":47,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2024,4,19]],"date-time":"2024-04-19T00:00:00Z","timestamp":1713484800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004861","name":"Mackay Memorial Hospital","doi-asserted-by":"publisher","award":["MMH-E-113-13, MMH-MM-112-14, MMH-E-112-13, and MMH-E-111-13","NSTC-112-2314-B-195-014-MY3, NSTC-112-2811-B-195-001, NSTC-112-2314-B-195-003, NSTC-111-2314-B-195-017, NSTC-111-2811-B-195-002, NSTC-111-2811-B-195-001, NSTC-110-2314-B-195-014, NSTC-110-2314-B-195-010-MY3, and NSTC-110-2314-B-195-029"],"award-info":[{"award-number":["MMH-E-113-13, MMH-MM-112-14, MMH-E-112-13, and MMH-E-111-13","NSTC-112-2314-B-195-014-MY3, NSTC-112-2811-B-195-001, NSTC-112-2314-B-195-003, NSTC-111-2314-B-195-017, NSTC-111-2811-B-195-002, NSTC-111-2811-B-195-001, NSTC-110-2314-B-195-014, NSTC-110-2314-B-195-010-MY3, and NSTC-110-2314-B-195-029"]}],"id":[{"id":"10.13039\/501100004861","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Ministry of Science and Technology, Executive Yuan, Taiwan","award":["MMH-E-113-13, MMH-MM-112-14, MMH-E-112-13, and MMH-E-111-13","NSTC-112-2314-B-195-014-MY3, NSTC-112-2811-B-195-001, NSTC-112-2314-B-195-003, NSTC-111-2314-B-195-017, NSTC-111-2811-B-195-002, NSTC-111-2811-B-195-001, NSTC-110-2314-B-195-014, NSTC-110-2314-B-195-010-MY3, and NSTC-110-2314-B-195-029"],"award-info":[{"award-number":["MMH-E-113-13, MMH-MM-112-14, MMH-E-112-13, and MMH-E-111-13","NSTC-112-2314-B-195-014-MY3, NSTC-112-2811-B-195-001, NSTC-112-2314-B-195-003, NSTC-111-2314-B-195-017, NSTC-111-2811-B-195-002, NSTC-111-2811-B-195-001, NSTC-110-2314-B-195-014, NSTC-110-2314-B-195-010-MY3, and NSTC-110-2314-B-195-029"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype\u2013phenotype correlations in Asian populations are not fully elucidated. This study performed a retrospective analysis of 23 Taiwanese patients with molecularly confirmed Kabuki syndrome. Twenty-two patients presented with pathogenic variants in the KMT2D gene. Comprehensive clinical assessments were performed. A literature review was conducted to summarize the spectrum of CHDs in patients with Kabuki syndrome. In total, 16 (73.9%) of 22 patients with pathogenic KMT2D variants had CHDs. The most common types of CHD were atrial septal defects (37.5%), ventricular septal defects (18.8%), coarctation of the aorta (18.8%), bicuspid aortic valve (12.5%), persistent left superior vena cava (12.5%), mitral valve prolapse (12.5%), mitral regurgitation (12.5%), and patent ductus arteriosus (12.5%). Other cardiac abnormalities were less common. Further, there were no clear genotype\u2013phenotype correlations found. A literature review revealed similar patterns of CHDs, with a predominance of left-sided obstructive lesions and septal defects. In conclusion, the most common types of CHDs in Taiwanese patients with Kabuki syndrome who presented with KMT2D mutations are left-sided obstructive lesions and septal defects.<\/jats:p>","DOI":"10.3390\/diagnostics14080846","type":"journal-article","created":{"date-parts":[[2024,4,19]],"date-time":"2024-04-19T06:28:09Z","timestamp":1713508089000},"page":"846","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8178-6938","authenticated-orcid":false,"given":"Chung-Lin","family":"Lee","sequence":"first","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Institute of Clinical Medicine, National Yang-Ming Chiao-Tung University, Taipei 112304, Taiwan"},{"name":"Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Medicine, Mackay Medical College, New Taipei City 25245, Taiwan"},{"name":"Department of Nursing, Mackay Junior College of Medicine, Nursing and Management, Taipei 112021, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9776-2092","authenticated-orcid":false,"given":"Chih-Kuang","family":"Chuang","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"College of Medicine, Fu-Jen Catholic University, Taipei 24205, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0708-1002","authenticated-orcid":false,"given":"Ming-Ren","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ju-Li","family":"Lin","sequence":"additional","affiliation":[{"name":"Division of Endocrine & Medical Genetics, Department of Pediatrics, Chang Gung Children\u2019s Medical Center, Chang Gung Memorial Hospital, Taoyuan 33378, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Huei-Ching","family":"Chiu","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ya-Hui","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan-Rong","family":"Tu","sequence":"additional","affiliation":[{"name":"Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yun-Ting","family":"Lo","sequence":"additional","affiliation":[{"name":"Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9619-0990","authenticated-orcid":false,"given":"Hsiang-Yu","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Medicine, Mackay Medical College, New Taipei City 25245, Taiwan"},{"name":"Department of Nursing, Mackay Junior College of Medicine, Nursing and Management, Taipei 112021, Taiwan"},{"name":"Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Medical Research, China Medical University Hospital, China Medical University, Taichung 40402, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuan-Pei","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Medicine, Mackay Medical College, New Taipei City 25245, Taiwan"},{"name":"Division of Genetics and Metabolism, Department of Medical Research, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei 11219, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,4,19]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1016\/S0022-3476(81)80256-9","article-title":"A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation","volume":"99","author":"Kuroki","year":"1981","journal-title":"J. Pediatr."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/S0022-3476(81)80255-7","article-title":"Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency","volume":"99","author":"Niikawa","year":"1981","journal-title":"J. Pediatr."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1136\/jmedgenet-2018-105625","article-title":"Kabuki syndrome: International consensus diagnostic criteria","volume":"56","author":"Adam","year":"2019","journal-title":"J. Med. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1136\/archdischild-2013-305858","article-title":"Kabuki syndrome: Clinical and molecular diagnosis in the first year of life","volume":"100","author":"Dentici","year":"2015","journal-title":"Arch. Dis. Child."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1186\/s13023-019-1219-x","article-title":"Kabuki syndrome: Novel pathogenic variants, new phenotypes and review of literature","volume":"14","author":"Shangguan","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1002\/ajmg.1265","article-title":"Congenital heart defects in Kabuki syndrome","volume":"100","author":"Digilio","year":"2001","journal-title":"Am. J. Med. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1002\/ajmg.a.30340","article-title":"Further delineation of Kabuki syndrome in 48 well-defined new individuals","volume":"132A","author":"Armstrong","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1002\/ajmg.a.30331","article-title":"Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management","volume":"132A","author":"Spruyt","year":"2005","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1002\/ajmg.1320310312","article-title":"Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients","volume":"31","author":"Niikawa","year":"1988","journal-title":"Am. J. Med. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1097\/00019605-199204000-00001","article-title":"Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 16 non-Japanese cases","volume":"1","author":"Philip","year":"1992","journal-title":"Clin. Dysmorphol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1002\/ajmg.1320590303","article-title":"Kabuki make-up (Niikawa-Kuroki) syndrome in five Spanish children","volume":"59","year":"1995","journal-title":"Am. J. Med. Genet."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1002\/(SICI)1096-8628(19980901)79:2<112::AID-AJMG7>3.0.CO;2-S","article-title":"Thirteen cases of Niikawa-Kuroki syndrome: Report and review with emphasis on medical complications and preventive management","volume":"79","author":"Wilson","year":"1998","journal-title":"Am. J. Med. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"790","DOI":"10.1038\/ng.646","article-title":"Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome","volume":"42","author":"Ng","year":"2010","journal-title":"Nat. Genet."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1002\/ajmg.a.34074","article-title":"Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome","volume":"155A","author":"Hannibal","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1007\/s00439-011-1004-y","article-title":"A mutation screen in patients with Kabuki syndrome","volume":"130","author":"Li","year":"2011","journal-title":"Hum. Genet."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1186\/1750-1172-6-38","article-title":"Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients","volume":"6","author":"Micale","year":"2011","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"E2018","DOI":"10.1002\/humu.21416","article-title":"MLL2 mutation spectrum in 45 patients with Kabuki syndrome","volume":"32","author":"Paulussen","year":"2011","journal-title":"Hum. Mutat."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1038\/ejhg.2011.220","article-title":"How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum","volume":"20","author":"Banka","year":"2012","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1111\/cge.12081","article-title":"MLL2 mutation detection in 86 patients with Kabuki syndrome: A genotype-phenotype study","volume":"84","author":"Makrythanasis","year":"2013","journal-title":"Clin. Genet."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/j.ajhg.2011.11.021","article-title":"Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome","volume":"90","author":"Lederer","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1002\/humu.22229","article-title":"KDM6A point mutations cause Kabuki syndrome","volume":"34","author":"Miyake","year":"2013","journal-title":"Hum. Mutat."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1111\/cge.12363","article-title":"Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)","volume":"87","author":"Banka","year":"2015","journal-title":"Clin. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"3585","DOI":"10.1172\/JCI80102","article-title":"RAP1-mediated MEK\/ERK pathway defects in Kabuki syndrome","volume":"125","author":"Tsai","year":"2015","journal-title":"J. Clin. Investig."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1111\/cge.12773","article-title":"A de novo frameshift in HNRNPK causing a Kabuki-like syndrome with nodular heterotopia","volume":"90","author":"Lange","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1002\/humu.22837","article-title":"GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK","volume":"36","author":"Au","year":"2015","journal-title":"Hum. Mutat."},{"key":"ref_26","doi-asserted-by":"crossref","unstructured":"Moher, D., Liberati, A., Tetzlaff, J., Altman, D.G., and PRISMA Group (2009). Preferred reporting items for systematic reviews and meta-analyses: The PRISMA statement. PLoS Med., 6.","DOI":"10.1371\/journal.pmed.1000097"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"2912","DOI":"10.1002\/ajmg.a.38417","article-title":"Congenital heart defects in molecularly proven Kabuki syndrome patients","volume":"173","author":"Digilio","year":"2017","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1016\/0002-9149(63)90098-5","article-title":"The developmental complex of \u201cparachute mitral valve,\u201d supravalvular ring of left atrium, subaortic stenosis, and coarctation of aorta","volume":"11","author":"Shone","year":"1963","journal-title":"Am. J. Cardiol."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"256","DOI":"10.3345\/kjp.2015.58.7.256","article-title":"The strong association of left-side heart anomalies with Kabuki syndrome","volume":"58","author":"Yoon","year":"2015","journal-title":"Korean J. Pediatr."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1007\/s00246-008-9197-0","article-title":"A novel constellation of cardiac findings for Kabuki syndrome: Hypoplastic left heart syndrome and partial anomalous pulmonary venous drainage","volume":"29","author":"Shahdadpuri","year":"2008","journal-title":"Pediatr. Cardiol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"82","DOI":"10.1007\/s00246-008-9286-0","article-title":"Double aortic arch: An unreported anomaly with Kabuki syndrome","volume":"30","author":"Moral","year":"2009","journal-title":"Pediatr. Cardiol."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"121","DOI":"10.5603\/CJ.2013.0023","article-title":"Congenital heart defects in Kabuki syndrome","volume":"20","author":"Yuan","year":"2013","journal-title":"Cardiol. J."},{"key":"ref_33","first-page":"167","article-title":"Familial transmission of a dysmorphic syndrome: A variant example of Kabuki syndrome?","volume":"16","author":"Belengeanu","year":"2005","journal-title":"Genet. Couns."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"257","DOI":"10.1097\/00019605-200110000-00004","article-title":"Clinical phenotypes of nine cases of Kabuki syndrome from New Zealand","volume":"10","author":"McGaughran","year":"2001","journal-title":"Clin. Dysmorphol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"317","DOI":"10.3345\/kjp.2015.58.9.317","article-title":"Kabuki syndrome: Clinical and molecular characteristics","volume":"58","author":"Cheon","year":"2015","journal-title":"Korean J. Pediatr."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1002\/humu.23026","article-title":"Mutation update for Kabuki syndrome genes KMT2D and KDM6A and further delineation of X-linked Kabuki syndrome Subtype 2","volume":"37","author":"Gatinois","year":"2016","journal-title":"Hum. Mutat."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1002\/ajmg.a.36442","article-title":"A three generation x-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A","volume":"164A","author":"Lederer","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1002\/ajmg.a.36797","article-title":"Deletions of 9q21.3 including NTRK2 are associated with severe phenotype","volume":"167A","author":"Hancarova","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1126\/science.1149042","article-title":"Demethylation of H3K27 regulates polycomb recruitment and H2A ubiquitination","volume":"318","author":"Lee","year":"2007","journal-title":"Science"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"4443","DOI":"10.1093\/hmg\/ddv180","article-title":"Kabuki syndrome genes KMT2D and KDM6A: Functional analyses demonstrate critical roles in craniofacial, heart and brain development","volume":"24","author":"Neitzel","year":"2015","journal-title":"Hum. Mol. Genet."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1242\/dev.132688","article-title":"KMT2D regulates specific programs in heart development via histone H3 lysine 4 di-methylation","volume":"143","author":"Ang","year":"2016","journal-title":"Development"},{"key":"ref_42","doi-asserted-by":"crossref","unstructured":"Serrano, M.L.A., Demarest, B.L., Tone-Pah-Hote, T., Tristani-Firouzi, M., and Yost, H.J. (2019). Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome. PLoS Biol., 17.","DOI":"10.1371\/journal.pbio.3000087"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1016\/j.devcel.2012.01.014","article-title":"Coordinating tissue interactions: Notch signaling in cardiac development and disease","volume":"22","author":"Epstein","year":"2012","journal-title":"Dev. Cell"},{"key":"ref_44","doi-asserted-by":"crossref","unstructured":"Shpargel, K.B., Starmer, J., Yee, D., Pohlers, M., and Magnuson, T. (2014). KDM6 demethylase independent loss of histone H3 lysine 27 trimethylation during early embryonic development. PLoS Genet., 10.","DOI":"10.1371\/journal.pgen.1004507"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"3651","DOI":"10.1093\/hmg\/ddy241","article-title":"Dissecting KMT2D missense mutations in Kabuki syndrome patients","volume":"27","author":"Cocciadiferro","year":"2018","journal-title":"Hum. Mol. Genet."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"102149","DOI":"10.1016\/j.jaccas.2023.102149","article-title":"Type A aortic dissection in a 24-year-old patient with Kabuki syndrome","volume":"29","author":"Hasami","year":"2023","journal-title":"JACC. Case Rep."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1007\/s00246-009-9554-7","article-title":"Hypoplastic left heart syndrome in patients with Kabuki syndrome","volume":"31","author":"Kung","year":"2010","journal-title":"Pediatr. Cardiol."}],"container-title":["Diagnostics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4418\/14\/8\/846\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T14:30:55Z","timestamp":1760106655000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4418\/14\/8\/846"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,19]]},"references-count":47,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2024,4]]}},"alternative-id":["diagnostics14080846"],"URL":"https:\/\/doi.org\/10.3390\/diagnostics14080846","relation":{},"ISSN":["2075-4418"],"issn-type":[{"type":"electronic","value":"2075-4418"}],"subject":[],"published":{"date-parts":[[2024,4,19]]}}}