{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,10]],"date-time":"2026-04-10T14:29:10Z","timestamp":1775831350334,"version":"3.50.1"},"reference-count":50,"publisher":"MDPI AG","issue":"9","license":[{"start":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T00:00:00Z","timestamp":1724716800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"National Agency for Scientific and Technological Promotion Grant (ANPCyT)","award":["PICT-2018-00823"],"award-info":[{"award-number":["PICT-2018-00823"]}]},{"name":"National Agency for Scientific and Technological Promotion Grant (ANPCyT)","award":["PIP 2021-11220200102690CO"],"award-info":[{"award-number":["PIP 2021-11220200102690CO"]}]},{"name":"Multiannual Research Project grant of the National Council for Scientific and Technical Research-CONICET","award":["PICT-2018-00823"],"award-info":[{"award-number":["PICT-2018-00823"]}]},{"name":"Multiannual Research Project grant of the National Council for Scientific and Technical Research-CONICET","award":["PIP 2021-11220200102690CO"],"award-info":[{"award-number":["PIP 2021-11220200102690CO"]}]},{"name":"National Ministry of Health","award":["PICT-2018-00823"],"award-info":[{"award-number":["PICT-2018-00823"]}]},{"name":"National Ministry of Health","award":["PIP 2021-11220200102690CO"],"award-info":[{"award-number":["PIP 2021-11220200102690CO"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>Waardenburg syndrome (WS) is a common genetic cause of syndromic hearing loss, accounting for 2\u20135% of congenital cases. It is characterized by hearing impairment and pigmentation abnormalities in the skin, hair, and eyes. Seven genes are associated with WS: PAX3, MITF, EDNRB, EDN3, SOX10, KITLG, and SNAI2. This study investigates the genetic causes of WS in three familial cases. Whole-exome sequencing (WES) was performed to identify single nucleotide variants (SNVs). Copy number variants (CNVs) were analyzed from the WES raw data and through multiplex ligation-dependent probe amplification (MLPA). The study identified one pathogenic SNV and two novel CNVs, corresponding to type I and type II WS patterns in the three families. The SNV, a nonsense variant (c.1198C&gt;T p.Arg400*), was found in MITF and segregated in the affected father. The two CNVs were a deletion of exon 5 in PAX3 in a family with two affected members and a large novel deletion comprising seven genes, including SOX10, in a family with three affected members. These findings confirmed a WS diagnosis through genetic testing. The study emphasizes the importance of integrating multiple genetic testing approaches for accurate and reliable diagnosis, highlighting their role in improving patient management and providing tailored genetic counseling.<\/jats:p>","DOI":"10.3390\/jpm14090906","type":"journal-article","created":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T06:19:01Z","timestamp":1724739541000},"page":"906","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Comprehensive Approach for the Genetic Diagnosis of Patients with Waardenburg Syndrome"],"prefix":"10.3390","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2985-4790","authenticated-orcid":false,"given":"Paula In\u00e9s","family":"Buonfiglio","sequence":"first","affiliation":[{"name":"Laboratory of Physiology and Genetics of Hearing, Institute of Genetic Engineering and Molecular Biology \u201cDr. H\u00e9ctor N. Torres\u201d\u2014National Council of Scientific and Technology (INGEBI-CONICET), Buenos Aires C1428ADN, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2712-5180","authenticated-orcid":false,"given":"Agust\u00edn","family":"Izquierdo","sequence":"additional","affiliation":[{"name":"Center for Endocrinological Research \u201cDr. C\u00e9sar Bergad\u00e1\u201d (CEDIE)\u2014CONICET, FEI, Endocrinology Divisi\u00f3n, Ricardo Guti\u00e9rrez Children\u2019s Hospital, Buenos Aires C1425EFD, Argentina"},{"name":"Translational Medicine Unit, Ricardo Guti\u00e9rrez Children\u2019s Hospital, Buenos Aires C1425EFD, Argentina"},{"name":"Patagonian Translational Knowledge Unit, El Calafate SAMIC High Complexity Hospital, El Calafate Z9405, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-4674-1275","authenticated-orcid":false,"given":"Mariela Vanina","family":"Pace","sequence":"additional","affiliation":[{"name":"Laboratory of Physiology and Genetics of Hearing, Institute of Genetic Engineering and Molecular Biology \u201cDr. H\u00e9ctor N. Torres\u201d\u2014National Council of Scientific and Technology (INGEBI-CONICET), Buenos Aires C1428ADN, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-8265-9003","authenticated-orcid":false,"given":"Sofia","family":"Grinberg","sequence":"additional","affiliation":[{"name":"Laboratory of Physiology and Genetics of Hearing, Institute of Genetic Engineering and Molecular Biology \u201cDr. H\u00e9ctor N. Torres\u201d\u2014National Council of Scientific and Technology (INGEBI-CONICET), Buenos Aires C1428ADN, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2473-5426","authenticated-orcid":false,"given":"Vanesa","family":"Lotersztein","sequence":"additional","affiliation":[{"name":"Genetics Service, Central Military Hospital Surgeon General \u201cDr. Cosme Argerich\u201d, Buenos Aires C1426, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paloma","family":"Brun","sequence":"additional","affiliation":[{"name":"\u201cEl Cruce\u201d N\u00e9stor Carlos Kirchner High Complexity Hospital, Buenos Aires B1888, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0726-5418","authenticated-orcid":false,"given":"Carlos David","family":"Bruque","sequence":"additional","affiliation":[{"name":"Patagonian Translational Knowledge Unit, El Calafate SAMIC High Complexity Hospital, El Calafate Z9405, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9487-0311","authenticated-orcid":false,"given":"Ana Bel\u00e9n","family":"Elgoyhen","sequence":"additional","affiliation":[{"name":"Laboratory of Physiology and Genetics of Hearing, Institute of Genetic Engineering and Molecular Biology \u201cDr. H\u00e9ctor N. Torres\u201d\u2014National Council of Scientific and Technology (INGEBI-CONICET), Buenos Aires C1428ADN, Argentina"},{"name":"Pharmacology Institute, Faculty of Medicine, University of Buenos Aires, Buenos Aires C1121A6B, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5283-4726","authenticated-orcid":false,"given":"Viviana","family":"Dalam\u00f3n","sequence":"additional","affiliation":[{"name":"Laboratory of Physiology and Genetics of Hearing, Institute of Genetic Engineering and Molecular Biology \u201cDr. H\u00e9ctor N. Torres\u201d\u2014National Council of Scientific and Technology (INGEBI-CONICET), Buenos Aires C1428ADN, Argentina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,8,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"44","DOI":"10.1111\/coa.12312","article-title":"Waardenburg Syndrome: More Common than You Think!","volume":"40","author":"Zaman","year":"2015","journal-title":"Clin. Otolaryngol."},{"key":"ref_2","unstructured":"Ahmed Jan, N., Mui, R.K., and Masood, S. (2023). Waardenburg Syndrome. StatPearls, StatPearls Publishing."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1111\/pde.13713","article-title":"Biology of Human Melanocyte Development, Piebaldism, and Waardenburg Syndrome","volume":"36","author":"Saleem","year":"2019","journal-title":"Pediatr. Dermatol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/ajmg.a.60693","article-title":"A Homozygous MITF Mutation Leads to Familial Waardenburg Syndrome Type 4","volume":"179","author":"Pang","year":"2019","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"694","DOI":"10.1016\/j.pedhc.2019.06.001","article-title":"Identification of Waardenburg Syndrome and the Management of Hearing Loss and Associated Sequelae: A Review for the Pediatric Nurse Practitioner","volume":"33","author":"Ringer","year":"2019","journal-title":"J. Pediatr. Health Care"},{"key":"ref_6","unstructured":"Adam, M.P., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., Bean, L.J.H., Gripp, K.W., and Amemiya, A. (2001). Waardenburg Syndrome Type I. GeneReviews, University of Washington, Seattle."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"111738","DOI":"10.1016\/j.ijporl.2023.111738","article-title":"Cochlear Implantation in Waardenburg Syndrome: Systematic Review and Meta-Analysis","volume":"175","author":"Vanstrum","year":"2023","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1038\/s41434-021-00240-2","article-title":"Genetic Insights, Disease Mechanisms, and Biological Therapeutics for Waardenburg Syndrome","volume":"29","author":"Huang","year":"2022","journal-title":"Gene Ther."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"391","DOI":"10.1002\/humu.21211","article-title":"Review and Update of Mutations Causing Waardenburg Syndrome","volume":"31","author":"Pingault","year":"2010","journal-title":"Hum. Mutat."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"e1128","DOI":"10.1002\/mgg3.1128","article-title":"Identification of Six Novel Variants in Waardenburg Syndrome Type II by next-Generation Sequencing","volume":"8","author":"Ren","year":"2020","journal-title":"Mol. Genet. Genom. Med."},{"key":"ref_11","unstructured":"(2023, August 24). World Health Organization (WHO). Available online: https:\/\/www.who.int\/."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"2151","DOI":"10.1056\/NEJMra050700","article-title":"Newborn Hearing Screening--a Silent Revolution","volume":"354","author":"Morton","year":"2006","journal-title":"N. Engl. J. Med."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"4321","DOI":"10.1093\/nar\/8.19.4321","article-title":"Rapid Isolation of High Molecular Weight Plant DNA","volume":"8","author":"Murray","year":"1980","journal-title":"Nucleic Acids Res."},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Buonfiglio, P.I., Bruque, C.D., Lotersztein, V., Luce, L., Giliberto, F., Menazzi, S., Francipane, L., Paoli, B., Goldschmidt, E., and Elgoyhen, A.B. (2022). Predicting Pathogenicity for Novel Hearing Loss Mutations Based on Genetic and Protein Structure Approaches. Sci. Rep., 12.","DOI":"10.1038\/s41598-021-04081-2"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1038\/s41436-019-0686-8","article-title":"Technical Standards for the Interpretation and Reporting of Constitutional Copy-Number Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen)","volume":"22","author":"Riggs","year":"2020","journal-title":"Genet. Med."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet. Med."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1002\/humu.23630","article-title":"Expert Specification of the ACMG\/AMP Variant Interpretation Guidelines for Genetic Hearing Loss","volume":"39","author":"Oza","year":"2018","journal-title":"Hum. Mutat."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1734","DOI":"10.1002\/humu.24088","article-title":"Fitting a Naturally Scaled Point System to the ACMG\/AMP Variant Classification Guidelines","volume":"41","author":"Tavtigian","year":"2020","journal-title":"Hum. Mutat."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1007\/978-1-0716-2293-3_6","article-title":"DECoN: A Detection and Visualization Tool for Exonic Copy Number Variants","volume":"2493","author":"Fowler","year":"2022","journal-title":"Methods Mol. Biol."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"564","DOI":"10.1002\/humu.22981","article-title":"HGVS Recommendations for the Description of Sequence Variants: 2016 Update","volume":"37","author":"Dalgleish","year":"2016","journal-title":"Hum. Mutat."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1159\/000476020","article-title":"A Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred","volume":"8","author":"Jalilian","year":"2017","journal-title":"Mol. Syndromol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1111\/pcmr.12733","article-title":"Homozygous Intronic MITF Mutation Causes Severe Waardenburg Syndrome Type 2A","volume":"32","author":"Rauschendorf","year":"2019","journal-title":"Pigment Cell Melanoma Res."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1388","DOI":"10.1016\/j.ajhg.2016.11.004","article-title":"Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness","volume":"99","author":"George","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"ref_24","doi-asserted-by":"crossref","unstructured":"Ideura, M., Nishio, S.-Y., Moteki, H., Takumi, Y., Miyagawa, M., Sato, T., Kobayashi, Y., Ohyama, K., Oda, K., and Matsui, T. (2019). Comprehensive Analysis of Syndromic Hearing Loss Patients in Japan. Sci. Rep., 9.","DOI":"10.1038\/s41598-019-47141-4"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"7143458","DOI":"10.1155\/2019\/7143458","article-title":"New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing","volume":"2019","author":"Li","year":"2019","journal-title":"Neural Plast."},{"key":"ref_26","first-page":"6054","article-title":"A Novel Variant in MITF in a Child from Yunnan-Guizhou Plateau with Autosomal Dominant Inheritance of Nonsyndromic Hearing Loss: A Case Report","volume":"17","author":"Zhang","year":"2018","journal-title":"Mol. Med. Rep."},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Thongpradit, S., Jinawath, N., Javed, A., Noojarern, S., Khongkraparn, A., Tim-Aroon, T., Lertsukprasert, K., Suktitipat, B., Jensen, L.T., and Wattanasirichaigoon, D. (2020). MITF Variants Cause Nonsyndromic Sensorineural Hearing Loss with Autosomal Recessive Inheritance. Sci. Rep., 10.","DOI":"10.1038\/s41598-020-69633-4"},{"key":"ref_28","doi-asserted-by":"crossref","unstructured":"Sun, L., Li, X., Shi, J., Pang, X., Hu, Y., Wang, X., Wu, H., and Yang, T. (2016). Molecular Etiology and Genotype-Phenotype Correlation of Chinese Han Deaf Patients with Type I and Type II Waardenburg Syndrome. Sci. Rep., 6.","DOI":"10.1038\/srep35498"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"839","DOI":"10.1007\/s00439-021-02301-3","article-title":"Analysis of Genotype-Phenotype Relationships in 90 Chinese Probands with Waardenburg Syndrome","volume":"141","author":"Wang","year":"2022","journal-title":"Hum. Genet."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"497","DOI":"10.1093\/hmg\/5.4.497","article-title":"Phenotypic Variation in Waardenburg Syndrome: Mutational Heterogeneity, Modifier Genes or Polygenic Background?","volume":"5","author":"Pandya","year":"1996","journal-title":"Hum. Mol. Genet."},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"Kingdom, R., and Wright, C.F. (2022). Incomplete Penetrance and Variable Expressivity: From Clinical Studies to Population Cohorts. Front. Genet., 13.","DOI":"10.3389\/fgene.2022.920390"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1111\/cge.13480","article-title":"Genetics Meets DNA Methylation in Rare Diseases","volume":"95","author":"Velasco","year":"2019","journal-title":"Clin. Genet."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1186\/s13023-024-03220-y","article-title":"Deciphering Potential Causative Factors for Undiagnosed Waardenburg Syndrome through Multi-Data Integration","volume":"19","author":"Sun","year":"2024","journal-title":"Orphanet J. Rare Dis."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"416","DOI":"10.1111\/cge.12631","article-title":"Hearing Loss in Waardenburg Syndrome: A Systematic Review","volume":"89","author":"Song","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1089\/gte.2006.0531","article-title":"The Value of MLPA in Waardenburg Syndrome","volume":"11","author":"Milunsky","year":"2007","journal-title":"Genet. Test."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1086\/522090","article-title":"Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4","volume":"81","author":"Bondurand","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1016\/j.bbrc.2010.05.066","article-title":"Novel Mutations of PAX3, MITF, and SOX10 Genes in Chinese Patients with Type I or Type II Waardenburg Syndrome","volume":"397","author":"Chen","year":"2010","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1016\/j.ejmg.2012.07.002","article-title":"A 725 Kb Deletion at 22q13.1 Chromosomal Region Including SOX10 Gene in a Boy with a Neurologic Variant of Waardenburg Syndrome Type 2","volume":"55","author":"Siomou","year":"2012","journal-title":"Eur. J. Med. Genet."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1038\/s41586-023-06045-0","article-title":"A Genomic Mutational Constraint Map Using Variation in 76,156 Human Genomes","volume":"625","author":"Chen","year":"2024","journal-title":"Nature"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of Protein-Coding Genetic Variation in 60,706 Humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"ref_41","doi-asserted-by":"crossref","unstructured":"Talevich, E., Shain, A.H., Botton, T., and Bastian, B.C. (2016). CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing. PLoS Comput. Biol., 12.","DOI":"10.1371\/journal.pcbi.1004873"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"S37","DOI":"10.1038\/ng2080","article-title":"Copy-Number Variation and Association Studies of Human Disease","volume":"39","author":"McCarroll","year":"2007","journal-title":"Nat. Genet."},{"key":"ref_43","doi-asserted-by":"crossref","unstructured":"Singh, A.K., Olsen, M.F., Lavik, L.A.S., Vold, T., Drabl\u00f8s, F., and Sjursen, W. (2021). Detecting Copy Number Variation in next Generation Sequencing Data from Diagnostic Gene Panels. BMC Med. Genom., 14.","DOI":"10.1186\/s12920-021-01059-x"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1179\/096979507799103478","article-title":"Case Report: Association of Waardenburg Syndrome with Intellectual Disability, Autistic Spectrum Disorder and Unprovoked Aggressive Outbursts: A New Behavioural Phenotype?","volume":"53","author":"Kiani","year":"2007","journal-title":"Br. J. Dev. Disabil."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"e254741","DOI":"10.1136\/bcr-2023-254741","article-title":"Association of Autism Spectrum Disorder with Waardenburg Syndrome in a Toddler","volume":"16","author":"George","year":"2023","journal-title":"BMJ Case Rep."},{"key":"ref_46","first-page":"137","article-title":"Mental Retardation and EEG Abnormalities in Waardenburg\u2019s Syndrome: Two Case Reports (EEG Anomalies in Waardenburg\u2019s Syndrome)","volume":"24","author":"Cantani","year":"1989","journal-title":"Padiatr. Padol."},{"key":"ref_47","first-page":"832","article-title":"10 mutation is relevant to inner ear malformation in patients with Waardenburg syndrome","volume":"51","author":"Xu","year":"2016","journal-title":"Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"1257","DOI":"10.3174\/ajnr.A3367","article-title":"Spectrum of Temporal Bone Abnormalities in Patients with Waardenburg Syndrome and SOX10 Mutations","volume":"34","author":"Baumann","year":"2013","journal-title":"AJNR Am. J. Neuroradiol."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1002\/ajmg.a.32657","article-title":"Aplasia of Cochlear Nerves and Olfactory Bulbs in Association with SOX10 Mutation","volume":"149A","author":"Barnett","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"1094","DOI":"10.1002\/lio2.1110","article-title":"Outcomes of Cochlear Implantation in Early-Deafened Patients with Waardenburg Syndrome: A Systematic Review and Narrative Synthesis","volume":"8","author":"Lovett","year":"2023","journal-title":"Laryngoscope Investig. Otolaryngol."}],"container-title":["Journal of Personalized Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4426\/14\/9\/906\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T15:43:18Z","timestamp":1760110998000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4426\/14\/9\/906"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,8,27]]},"references-count":50,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2024,9]]}},"alternative-id":["jpm14090906"],"URL":"https:\/\/doi.org\/10.3390\/jpm14090906","relation":{},"ISSN":["2075-4426"],"issn-type":[{"value":"2075-4426","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,8,27]]}}}