{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:43:53Z","timestamp":1787028233699,"version":"build-2736575974"},"reference-count":54,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2023,1,5]],"date-time":"2023-01-05T00:00:00Z","timestamp":1672876800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Chromosome 9p deletion syndrome is a rare autosomal dominant disorder presenting with a broad spectrum of clinical features, including congenital heart defects (CHDs). To date, studies focused on a deep characterization of cardiac phenotype and function associated with this condition are lacking. We conducted a multicentric prospective observational study on a cohort of 10 patients with a molecular diagnosis of 9p deletion syndrome, providing a complete cardiological assessment through conventional echocardiography and tissue Doppler imaging echo modality. As a result, we were able to demonstrate that patients with 9p deletion syndrome without major CHDs may display subclinical cardiac structural changes and left-ventricle systolic and diastolic dysfunction. Albeit needing validation in a larger cohort, our findings support the idea that a complete cardiac assessment should be performed in patients with 9p deletion syndrome and should be integrated in the context of a long-term follow-up.<\/jats:p>","DOI":"10.3390\/genes14010146","type":"journal-article","created":{"date-parts":[[2023,1,5]],"date-time":"2023-01-05T04:51:31Z","timestamp":1672894291000},"page":"146","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Insights into the Cardiac Phenotype in 9p Deletion Syndrome: A Multicenter Italian Experience and Literature Review"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9509-6778","authenticated-orcid":false,"given":"Flaminia","family":"Pugnaloni","sequence":"first","affiliation":[{"name":"Medical and Surgical Department of Fetus, Newborn and Infant, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"},{"name":"Department of Pediatrics, Obstetrics and Gynecology, \u201cSapienza\u201d University of Rome, Policlinico Umberto I, 00155 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3128-6657","authenticated-orcid":false,"given":"Roberta","family":"Onesimo","sequence":"additional","affiliation":[{"name":"Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, 00168 Rome, Italy"},{"name":"Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2424-4240","authenticated-orcid":false,"given":"Rita","family":"Blandino","sequence":"additional","affiliation":[{"name":"Catholic University of Sacred Heart, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3778-3769","authenticated-orcid":false,"given":"Carolina","family":"Putotto","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Obstetrics and Gynecology, \u201cSapienza\u201d University of Rome, Policlinico Umberto I, 00155 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4484-4729","authenticated-orcid":false,"given":"Paolo","family":"Versacci","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Obstetrics and Gynecology, \u201cSapienza\u201d University of Rome, Policlinico Umberto I, 00155 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2283-3180","authenticated-orcid":false,"given":"Angelica Bibiana","family":"Delogu","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, 00168 Rome, Italy"},{"name":"Catholic University of Sacred Heart, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Leoni","sequence":"additional","affiliation":[{"name":"Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, 00168 Rome, Italy"},{"name":"Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9566-4971","authenticated-orcid":false,"given":"Valentina","family":"Trevisan","sequence":"additional","affiliation":[{"name":"Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3448-6059","authenticated-orcid":false,"given":"Ileana","family":"Croci","sequence":"additional","affiliation":[{"name":"Multifactorial and Complex Diseases Research Area, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Cal\u00ec","sequence":"additional","affiliation":[{"name":"Department of Cardiac Surgery, Cardiology and Heart and Lung Transplant, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Cristina","family":"Digilio","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Zampino","sequence":"additional","affiliation":[{"name":"Rare Diseases Unit, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, 00168 Rome, Italy"},{"name":"Pediatric Unit, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, 00168 Rome, Italy"},{"name":"Catholic University of Sacred Heart, 00168 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Marino","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Obstetrics and Gynecology, \u201cSapienza\u201d University of Rome, Policlinico Umberto I, 00155 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3187-0829","authenticated-orcid":false,"given":"Giulio","family":"Calcagni","sequence":"additional","affiliation":[{"name":"Department of Cardiac Surgery, Cardiology and Heart and Lung Transplant, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, 00165 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,5]]},"reference":[{"key":"ref_1","first-page":"17","article-title":"Deletion of the Short Arm of Chromosome No.9 (46,9p-): A New Deletion Syndrome","volume":"16","author":"Alfi","year":"1973","journal-title":"Ann. Genet."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1430","DOI":"10.1002\/ajmg.a.32310","article-title":"Clinical and Cytogenetic Characterization of 13 Dutch Patients with Deletion 9p Syndrome: Delineation of the Critical Region for a Consensus Phenotype","volume":"146A","author":"Swinkels","year":"2008","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"741","DOI":"10.1136\/jmg.25.11.741","article-title":"Eleven New Cases of Del(9p) and Features from 80 Cases","volume":"25","author":"Huret","year":"1988","journal-title":"J. Med. Genet."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"e1829","DOI":"10.1002\/mgg3.1829","article-title":"Chromosome 9p Terminal Deletion in Nine Egyptian Patients and Narrowing of the Critical Region for Trigonocephaly","volume":"9","author":"Mohamed","year":"2021","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"1882","DOI":"10.1002\/ajmg.a.36018","article-title":"9p Partial Monosomy and Disorders of Sex Development: Review and Postulation of a Pathogenetic Mechanism","volume":"161","author":"Quinonez","year":"2013","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1016\/j.gene.2012.04.036","article-title":"Novel Chromosomal Translocation t(11;9)(P15;P23) Involving Deletion and Duplication of 9p in a Girl Associated with Autism and Mental Retardation","volume":"502","author":"Yang","year":"2012","journal-title":"Gene"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"a005348","DOI":"10.1101\/mcs.a005348","article-title":"Precise Breakpoint Detection in a Patient with 9p\u2013 Syndrome","volume":"6","author":"Ng","year":"2020","journal-title":"Cold Spring Harb. Mol. Case Stud."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"599","DOI":"10.1097\/GIM.0b013e31817e2bde","article-title":"Detailed Characterization of and Clinical Correlations in Ten Patients with Distal Deletions of Chromosome 9p","volume":"10","author":"Hauge","year":"2008","journal-title":"Genet. Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"1439","DOI":"10.1038\/ejhg.2009.70","article-title":"Characterization of Deletions at 9p Affecting the Candidate Regions for Sex Reversal and Deletion 9p Syndrome by MLPA","volume":"17","author":"Barbaro","year":"2009","journal-title":"Eur. J. Hum. Genet."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"2266","DOI":"10.1002\/ajmg.a.35489","article-title":"Chromosome 9p Deletion Syndrome and Sex Reversal: Novel Findings and Redefinition of the Critically Deleted Regions","volume":"158A","author":"Onesimo","year":"2012","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1136\/jmg.30.6.518","article-title":"Deletion 9p and Sex Reversal","volume":"30","author":"Bennett","year":"1993","journal-title":"J. Med. Genet."},{"key":"ref_12","first-page":"7","article-title":"Sex-Determining Gene(s) on Distal 9p: Clinical and Molecular Studies in Six Cases","volume":"85","author":"Muroya","year":"2000","journal-title":"J. Clin. Endocrinol. Metab."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1093\/molehr\/gam045","article-title":"Association of Deletion 9p, 46,XY Gonadal Dysgenesis and Autistic Spectrum Disorder","volume":"13","author":"Vinci","year":"2007","journal-title":"Mol. Hum. Reprod."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1111\/j.1741-4520.2012.00362.x","article-title":"Patient with Terminal 9 Mb Deletion of Chromosome 9p: Refining the Critical Region for 9p Monosomy Syndrome with Trigonocephaly","volume":"53","author":"Mitsui","year":"2013","journal-title":"Congenit. Anom."},{"key":"ref_15","first-page":"74","article-title":"A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature","volume":"158","author":"Bruni","year":"2019","journal-title":"CGR"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"74","DOI":"10.1542\/peds.2017-1904","article-title":"Clinical Practice Guideline for Screening and Management of High Blood Pressure in Children and Adolescents","volume":"140","author":"Flynn","year":"2017","journal-title":"Pediatrics"},{"key":"ref_17","first-page":"1","article-title":"CDC Growth Charts: United States","volume":"314","author":"Kuczmarski","year":"2000","journal-title":"Adv. Data"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1016\/S0022-3476(78)80601-5","article-title":"Geometric Method for Measuring Body Surface Area: A Height-Weight Formula Validated in Infants, Children, and Adults","volume":"93","author":"Haycock","year":"1978","journal-title":"J. Pediatrics"},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"1413","DOI":"10.1016\/j.echo.2006.09.001","article-title":"Guidelines and Standards for Performance of a Pediatric Echocardiogram: A Report from the Task Force of the Pediatric Council of the American Society of Echocardiography","volume":"19","author":"Lai","year":"2006","journal-title":"J. Am. Soc. Echocardiogr."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1016\/0002-9149(86)90771-X","article-title":"Echocardiographic Assessment of Left Ventricular Hypertrophy: Comparison to Necropsy Findings","volume":"57","author":"Devereux","year":"1986","journal-title":"Am. J. Cardiol."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1016\/0735-1097(92)90385-Z","article-title":"Left Ventricular Mass and Body Size in Normotensive Children and Adults: Assessment of Allometric Relations and Impact of Overweight","volume":"20","author":"Daniels","year":"1992","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"1189","DOI":"10.1016\/j.amjcard.2012.05.063","article-title":"Normal Limits in Relation to Age, Body Size and Gender of Two-Dimensional Echocardiographic Aortic Root Dimensions in Persons \u226515 Years of Age","volume":"110","author":"Devereux","year":"2012","journal-title":"Am. J. Cardiol"},{"key":"ref_23","first-page":"100081","article-title":"From Karyotypes to Precision Genomics in 9p Deletion and Duplication Syndromes","volume":"3","author":"Sams","year":"2021","journal-title":"HGG Adv."},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Vissers, L.E.L.M., Cox, T.C., Maga, A.M., Short, K.M., Wiradjaja, F., Janssen, I.M., Jehee, F., Bertola, D., Liu, J., and Yagnik, G. (2011). Heterozygous Mutations of FREM1 Are Associated with an Increased Risk of Isolated Metopic Craniosynostosis in Humans and Mice. PLoS Genet., 7.","DOI":"10.1371\/journal.pgen.1002278"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1002\/ajmg.a.31094","article-title":"Narrowing Candidate Region for Monosomy 9p Syndrome to a 4.7-Mb Segment at 9p22.2-P23","volume":"140","author":"Kawara","year":"2006","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_26","first-page":"165","article-title":"Ring Chromosome 9 and Chromosome 9p Deletion Syndrome in a Patient Associated with Developmental Delay: A Case Report and Review of the Literature","volume":"148","author":"Sivasankaran","year":"2016","journal-title":"CGR"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1242\/dev.142489","article-title":"Jmjd2c Facilitates the Assembly of Essential Enhancer-Protein Complexes at the Onset of Embryonic Stem Cell Differentiation","volume":"144","author":"Tomaz","year":"2017","journal-title":"Development"},{"key":"ref_28","unstructured":"(2022, December 02). JMJD8 Regulates Angiogenic Sprouting and Cellular Metabolism by Interacting With Pyruvate Kinase M2 in Endothelial Cells. Available online: http:\/\/www.ahajournals.org\/doi\/epub\/10.1161\/ATVBAHA.116.307695."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1515","DOI":"10.1002\/stem.1695","article-title":"Hhex and Cer1 Mediate the Sox17 Pathway for Cardiac Mesoderm Formation in Embryonic Stem Cells","volume":"32","author":"Liu","year":"2014","journal-title":"Stem Cells"},{"key":"ref_30","first-page":"369","article-title":"A W148R Mutation in the Human FOXD4 Gene Segregating with Dilated Cardiomyopathy, Obsessive-Compulsive Disorder, and Suicidality","volume":"19","author":"Minoretti","year":"2007","journal-title":"Int. J. Mol. Med."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1086\/302606","article-title":"Chromosome Breakage Hotspots and Delineation of the Critical Region for the 9p-Deletion Syndrome","volume":"65","author":"Christ","year":"1999","journal-title":"Am. J. Hum. Genet."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"2353","DOI":"10.1002\/ajmg.a.31961","article-title":"Further Refinement of the Candidate Region for Monosomy 9p Syndrome","volume":"143A","author":"Faas","year":"2007","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"616","DOI":"10.1097\/MOP.0000000000000661","article-title":"Cardiovascular Disease in Down Syndrome","volume":"30","author":"Versacci","year":"2018","journal-title":"Curr. Opin. Pediatr."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1111\/chd.12521","article-title":"Congenital Heart Disease and Cardiac Procedural Outcomes in Patients with Trisomy 21 and Turner Syndrome","volume":"12","year":"2017","journal-title":"Congenit. Heart Dis."},{"key":"ref_35","unstructured":"(2022, December 02). Cardiovascular Health in Turner Syndrome: A Scientific Statement From the American Heart Association. Available online: http:\/\/www.ahajournals.org\/doi\/epub\/10.1161\/HCG.0000000000000048."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1002\/ajmg.a.62529","article-title":"Genotype-Cardiac Phenotype Correlations in a Large Single-Center Cohort of Patients Affected by RASopathies: Clinical Implications and Literature Review","volume":"188","author":"Leoni","year":"2022","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1002\/ajmg.c.31761","article-title":"Congenital Heart Defects in CHARGE: The Molecular Role of CHD7 and Effects on Cardiac Phenotype and Clinical Outcomes","volume":"184","author":"Meisner","year":"2020","journal-title":"Am. J. Med. Genet. C Semin. Med. Genet."},{"key":"ref_38","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_39","doi-asserted-by":"crossref","first-page":"e653","DOI":"10.1161\/CIR.0000000000000606","article-title":"Genetic Basis for Congenital Heart Disease: Revisited","volume":"138","author":"Pierpont","year":"2018","journal-title":"Circulation"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.gene.2012.04.030","article-title":"Complex Rearrangement Involving 9p Deletion and Duplication in a Syndromic Patient: Genotype\/Phenotype Correlation and Review of the Literature","volume":"502","author":"Recalcati","year":"2012","journal-title":"Gene"},{"key":"ref_41","unstructured":"Meloni, V. de F.A.; Piazzon, F.B.; Soares, M. de F. de F.; Takeno, S.S.; Christofolini, D.M.; Kulikowski, L.D.; Brunoni, D.; Melaragno, M.I. Cytogenomic Characterization of an Unexpected 17.6Mb 9p Deletion Associated to a 14.8Mb 20p Duplication in a Dysmorphic Patient with Multiple Congenital Anomalies Presenting a Normal G-Banding Karyotype, Gene."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1007\/s00381-015-2957-2","article-title":"Clinical and Neuroradiological Features of the 9p Deletion Syndrome","volume":"32","author":"Spazzapan","year":"2016","journal-title":"Childs Nerv. Syst."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1007\/s10803-016-2943-x","article-title":"Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder","volume":"47","author":"Ekinci","year":"2017","journal-title":"J. Autism. Dev. Disord."},{"key":"ref_44","doi-asserted-by":"crossref","unstructured":"Le\u00f3n-Carlos, N.Y., Garc\u00eda-Delgado, C., Morales-Jim\u00e9nez, A.B., Serrano-Bello, C., Cervantes, A., and Mor\u00e1n Barroso, V.F. (2018). Monosom\u00eda 9p24 secundaria a translocaci\u00f3n (2;9) en dos pacientes no relacionadas. Arch. Argent Pediatr., 116.","DOI":"10.5546\/aap.2018.e603"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"3023","DOI":"10.1002\/ajmg.a.61890","article-title":"Ring Chromosome Formation by Intra-Strand Repairing of Subtelomeric Double Stand Breaks and Clinico-Cytogenomic Correlations for Ring Chromosome 9","volume":"182","author":"Chai","year":"2020","journal-title":"Am. J. Med. Genet. Part A"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"149","DOI":"10.12688\/wellcomeopenres.15465.2","article-title":"Refinement of the Critical Genomic Region for Congenital Hyperinsulinism in the Chromosome 9p Deletion Syndrome","volume":"4","author":"Banerjee","year":"2020","journal-title":"Wellcome Open Res."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"e04141","DOI":"10.1002\/ccr3.4141","article-title":"A Brother and Sister with the Same Karyotype: Case Report of Two Siblings with Partial 3p Duplication and Partial 9p Deletion and Sex Reversal","volume":"9","author":"Delk","year":"2021","journal-title":"Clin. Case Rep."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.tjog.2021.11.028","article-title":"Prenatal Diagnosis of de Novo Isochromosome 4p with an Unbalanced t(4;9) Translocation in a Fetus with Congenital Anomalies: A Case Report and Literature Review","volume":"61","author":"Yao","year":"2022","journal-title":"Taiwan. J. Obstet. Gynecol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1007\/s00246-018-1982-9","article-title":"Normal Values for Left Ventricular Mass in Relation to Lean Body Mass in Child and Adolescent Athletes","volume":"40","author":"Krysztofiak","year":"2019","journal-title":"Pediatr. Cardiol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"725","DOI":"10.21037\/cdt.2018.12.05","article-title":"Aortic Dilatation in Complex Congenital Heart Disease","volume":"8","author":"Niwa","year":"2018","journal-title":"Cardiovasc. Diagn. Ther."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1016\/j.ajhg.2009.03.010","article-title":"DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources","volume":"84","author":"Firth","year":"2009","journal-title":"Am. J. Hum. Genet."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"473","DOI":"10.1016\/j.ejmg.2018.03.009","article-title":"Neonatal Hyperinsulinemic Hypoglycemia in a Patient with 9p Deletion Syndrome","volume":"61","author":"Bayat","year":"2018","journal-title":"Eur. J. Med. Genet."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1136\/jmg.33.7.625","article-title":"A Mild Phenotype Associated with Der(9)t(3;9) (P25;P23)","volume":"33","author":"McClure","year":"1996","journal-title":"J. Med. Genet."},{"key":"ref_54","doi-asserted-by":"crossref","unstructured":"Nakamura, K., Miyoshi, T., Yoshida, M., Akagi, S., Saito, Y., Ejiri, K., Matsuo, N., Ichikawa, K., Iwasaki, K., and Naito, T. (2022). Pathophysiology and Treatment of Diabetic Cardiomyopathy and Heart Failure in Patients with Diabetes Mellitus. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23073587"}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/1\/146\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T17:59:47Z","timestamp":1760119187000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/14\/1\/146"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,5]]},"references-count":54,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,1]]}},"alternative-id":["genes14010146"],"URL":"https:\/\/doi.org\/10.3390\/genes14010146","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,5]]}}}