{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T11:00:01Z","timestamp":1791198001800,"version":"4.1.0"},"reference-count":55,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,9,1]],"date-time":"2015-09-01T00:00:00Z","timestamp":1441065600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"The Newlife Foundation","award":["13-14\/14"],"award-info":[{"award-number":["13-14\/14"]}]},{"DOI":"10.13039\/501100000833","name":"The Rosetrees Trust","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100000833","id-type":"DOI","asserted-by":"crossref"}]},{"name":"The Manchester NIHR Biomedical Research Centre"},{"name":"Manchester Academic Health Sciences Centre"},{"DOI":"10.13039\/501100005661","name":"Healing Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100005661","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Medical Genetics"],"published-print":{"date-parts":[[2015,9]]},"DOI":"10.1016\/j.ejmg.2015.07.003","type":"journal-article","created":{"date-parts":[[2015,7,20]],"date-time":"2015-07-20T02:39:10Z","timestamp":1437359950000},"page":"455-465","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":95,"title":["Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients"],"prefix":"10.1016","volume":"58","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5583-9175","authenticated-orcid":false,"given":"Ana","family":"Beleza-Meireles","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Hart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill","family":"Clayton-Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renata","family":"Oliveira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cl\u00e1udia Falc\u00e3o","family":"Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margarida","family":"Ven\u00e2ncio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabiana","family":"Ramos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joaquim","family":"S\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lina","family":"Ramos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabete","family":"Cunha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu\u00eds Miguel","family":"Pires","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel Marques","family":"Carreira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Scholey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronnie","family":"Wright","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill E.","family":"Urquhart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy A.","family":"Briggs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bronwyn","family":"Kerr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen","family":"Kingston","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kay","family":"Metcalfe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dian","family":"Donnai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William G.","family":"Newman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge Manuel","family":"Saraiva","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"May","family":"Tassabehji","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"2","key":"10.1016\/j.ejmg.2015.07.003_bib1","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1016\/j.ejmg.2010.11.010","article-title":"1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay","volume":"54","author":"Abdelmoity","year":"2011","journal-title":"Eur. J. Med. Genet."},{"issue":"19","key":"10.1016\/j.ejmg.2015.07.003_bib2","doi-asserted-by":"crossref","first-page":"2490","DOI":"10.1002\/ajmg.a.32479","article-title":"Further evidence for a relationship between the 5p15 chromosome region and the oculoauriculovertebral anomaly","volume":"146A","author":"Ala-Mello","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"issue":"8","key":"10.1016\/j.ejmg.2015.07.003_bib3","doi-asserted-by":"crossref","first-page":"2030","DOI":"10.1002\/ajmg.a.36007","article-title":"Autosomal dominant oculoauriculovertebral spectrum and 14q23.1 microduplication","volume":"161","author":"Ballesta-Mart\u00ednez","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"issue":"8","key":"10.1016\/j.ejmg.2015.07.003_bib4","doi-asserted-by":"crossref","first-page":"1026","DOI":"10.1038\/ejhg.2013.287","article-title":"Prevalence, prenatal diagnosis and clinical features of oculo-auriculo-vertebral spectrum: a registry-based study in Europe","volume":"22","author":"Barisic","year":"2014","journal-title":"Eur. J. Hum. Genet."},{"issue":"10","key":"10.1016\/j.ejmg.2015.07.003_bib5","doi-asserted-by":"crossref","first-page":"635","DOI":"10.1136\/jmedgenet-2014-102476","article-title":"Oculo-auriculo-vertebral spectrum: a review of the literature and genetic update","volume":"51","author":"Beleza-Meireles","year":"2014","journal-title":"J.\u00a0Med. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2015.07.003_bib6","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1016\/j.ejmg.2011.11.006","article-title":"1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype","volume":"55","author":"Brun","year":"2012","journal-title":"Eur. J. Med. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2015.07.003_bib7","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1016\/j.ijporl.2008.10.011","article-title":"The facial phenotype of the velo-cardio-facial syndrome","volume":"73","author":"Butts","year":"2009","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"issue":"16","key":"10.1016\/j.ejmg.2015.07.003_bib8","doi-asserted-by":"crossref","first-page":"2109","DOI":"10.1002\/ajmg.a.32447","article-title":"Array-CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2-p31.1 deletion in a patient with features overlapping the Goldenhar syndrome","volume":"146A","author":"Callier","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"issue":"2","key":"10.1016\/j.ejmg.2015.07.003_bib9","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1177\/0194599813512775","article-title":"Characterization of facial paresis in hemifacial microsomia","volume":"150","author":"Cline","year":"2014","journal-title":"Otolaryngol. Head. Neck Surg."},{"key":"10.1016\/j.ejmg.2015.07.003_bib10","doi-asserted-by":"crossref","first-page":"536","DOI":"10.1016\/S0007-1226(97)91303-5","article-title":"Current concepts in the understanding and management of hemifacial microsomia","volume":"50","author":"Cousley","year":"1997","journal-title":"Br. J. Plast. Surg."},{"issue":"12","key":"10.1016\/j.ejmg.2015.07.003_bib11","doi-asserted-by":"crossref","first-page":"2860","DOI":"10.1002\/ajmg.a.33034","article-title":"Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2","volume":"149A","author":"Digilio","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2015.07.003_bib12","doi-asserted-by":"crossref","first-page":"2860","DOI":"10.1002\/ajmg.a.33034","article-title":"Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2","volume":"149A","author":"Digilio","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2015.07.003_bib13","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1093\/hmg\/8.7.1157","article-title":"A\u00a0common molecular basis for rearrangement disorders on chromosome 22q11","volume":"8","author":"Edelmann","year":"1999","journal-title":"Hum. Mol. Genet."},{"issue":"5","key":"10.1016\/j.ejmg.2015.07.003_bib14","doi-asserted-by":"crossref","first-page":"1027","DOI":"10.1086\/378818","article-title":"Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients","volume":"73","author":"Ensenauer","year":"2003","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2015.07.003_bib15","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1016\/S0301-0503(82)80042-8","article-title":"The external ear, mandible and other components of hemifacial microsomia","volume":"10","author":"Figueroa","year":"1982","journal-title":"J.\u00a0Maxillofac. Surg."},{"issue":"3","key":"10.1016\/j.ejmg.2015.07.003_bib16","first-page":"321","article-title":"Oculo-auriculo-vertebral spectrum in Klinefelter syndrome","volume":"10","author":"Garavelli","year":"1999","journal-title":"Genet. Couns."},{"issue":"3","key":"10.1016\/j.ejmg.2015.07.003_bib17","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1002\/ajmg.a.32673","article-title":"Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1","volume":"149A","author":"Goodin","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"issue":"21","key":"10.1016\/j.ejmg.2015.07.003_bib18","doi-asserted-by":"crossref","first-page":"3970","DOI":"10.1016\/j.jmb.2013.07.015","article-title":"Impacts of variation in the human genome on gene regulation","volume":"425","author":"Haraksingh","year":"2013","journal-title":"J.\u00a0Mol. Biol."},{"key":"10.1016\/j.ejmg.2015.07.003_bib19","series-title":"GeneReviews\u00ae [Internet]","article-title":"Craniofacial microsomia overview","author":"Heike","year":"2009"},{"key":"10.1016\/j.ejmg.2015.07.003_bib20","first-page":"879","volume":"vol. 20","author":"Hennekam","year":"2010"},{"issue":"4","key":"10.1016\/j.ejmg.2015.07.003_bib21","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1002\/ajmg.1320290423","article-title":"Multiple congenital anomaly\/mental retardation (MCA\/MR) syndrome with Goldenhar complex due to a terminal del(22q)","volume":"29","author":"Herman","year":"1988","journal-title":"Am. J. Med. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2015.07.003_bib22","doi-asserted-by":"crossref","first-page":"311","DOI":"10.1620\/tjem.222.311","article-title":"Genome-wide scanning reveals complex etiology of oculo-auriculo-vertebral spectrum","volume":"222","author":"Huang","year":"2010","journal-title":"Tohoku J. Exp. Med."},{"key":"10.1016\/j.ejmg.2015.07.003_bib23","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ejmg.2010.03.004","article-title":"Two neighboring microdeletions of 5q13.2 in a child with oculo-auriculo-vertebral spectrum","volume":"53","author":"Huang","year":"2010","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2015.07.003_bib24","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1002\/ajmg.1320430602","article-title":"Oculoauriculovertebral anomaly: segregation analysis","volume":"43","author":"Kaye","year":"1992","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2015.07.003_bib25","doi-asserted-by":"crossref","first-page":"638","DOI":"10.1007\/s00439-001-0626-x","article-title":"Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome","volume":"109","author":"Kelberman","year":"2001","journal-title":"Hum. Genet."},{"issue":"12","key":"10.1016\/j.ejmg.2015.07.003_bib26","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1146\/annurev-genom-082410-101404","article-title":"Copy-number variations, noncoding sequences, and human phenotypes","volume":"22","author":"Klopocki","year":"2011","journal-title":"Annu. Rev. Genomics Hum. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2015.07.003_bib27","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1136\/jmg.32.6.453","article-title":"Epidemiology and genetics of microtia-anotia: a registry based study on over one million births","volume":"32","author":"Mastroiacovo","year":"1995","journal-title":"J.\u00a0Med. Genet."},{"key":"10.1016\/j.ejmg.2015.07.003_bib28","doi-asserted-by":"crossref","first-page":"1077","DOI":"10.1086\/340363","article-title":"Genomic disorders on 22q11","volume":"70","author":"McDermid","year":"2002","journal-title":"Am. J. Hum. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2015.07.003_bib29","first-page":"303","article-title":"The etiology of external ear malformations and its relation to abnormalities of the middle ear, inner ear, and other organ systems","volume":"16","author":"Melnick","year":"1980","journal-title":"Birth Defects Orig. Artic. Ser."},{"issue":"6","key":"10.1016\/j.ejmg.2015.07.003_bib30","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1159\/000368865","article-title":"A\u00a0mouse splice-site mutant and individuals with atypical chromosome 22q11.2 deletions demonstrate the crucial role for crkl in craniofacial and pharyngeal development","volume":"5","author":"Miller","year":"2014","journal-title":"Mol. Syndromol."},{"issue":"3","key":"10.1016\/j.ejmg.2015.07.003_bib31","first-page":"194","article-title":"Hemifacial microsomia in a patient with Klinefelter syndrome","volume":"17","author":"Poonawalla","year":"1980","journal-title":"Cleft Palate J."},{"issue":"2\u20133","key":"10.1016\/j.ejmg.2015.07.003_bib32","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.ejmg.2009.02.008","article-title":"Microduplication 22q11.2: a new chromosomal syndrome","volume":"52","author":"Portno\u00ef","year":"2009","journal-title":"Eur. J. Med. Genet."},{"issue":"8","key":"10.1016\/j.ejmg.2015.07.003_bib33","doi-asserted-by":"crossref","first-page":"1985","DOI":"10.1002\/ajmg.a.35895","article-title":"Hemifacial microsomia in cat-eye syndrome: 22q11.1-q11.21 as candidate loci for facial symmetry","volume":"161","author":"Quintero-Rivera","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"issue":"4","key":"10.1016\/j.ejmg.2015.07.003_bib34","doi-asserted-by":"crossref","first-page":"267","DOI":"10.4103\/0301-4738.18909","article-title":"Goldenhar's sequence with associated juvenile glaucoma in Turner's syndrome","volume":"53","author":"Rao","year":"2005","journal-title":"Indian J. Ophthalmol."},{"issue":"2","key":"10.1016\/j.ejmg.2015.07.003_bib35","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1002\/ajmg.1320150207","article-title":"Hemifacial microsomia and variants: pedigree data","volume":"15","author":"Rollnick","year":"1983","journal-title":"Am. J. Med. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2015.07.003_bib36","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1002\/ajmg.1320260215","article-title":"Oculoauriculovertebral dysplasia and variants: phenotypic characteristics of 294 patients","volume":"26","author":"Rollnick","year":"1987","journal-title":"Am. J. Med. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2015.07.003_bib37","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1016\/j.ejmg.2009.08.005","article-title":"2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene","volume":"52","author":"Rooryck","year":"2009","journal-title":"Eur. J. Med. Genet."},{"issue":"8","key":"10.1016\/j.ejmg.2015.07.003_bib38","doi-asserted-by":"crossref","first-page":"1984","DOI":"10.1002\/ajmg.a.33491","article-title":"Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum","volume":"152A","author":"Rooryck","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ejmg.2015.07.003_bib39","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1016\/j.ejmg.2010.01.003","article-title":"Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum","volume":"53","author":"Rooryck","year":"2010","journal-title":"Eur. J. Med. Genet."},{"issue":"3","key":"10.1016\/j.ejmg.2015.07.003_bib40","first-page":"237","article-title":"Phenotypic variability of the cat eye syndrome. Case report and review of the literature","volume":"12","author":"Rosias","year":"2001","journal-title":"Genet. Couns."},{"issue":"10","key":"10.1016\/j.ejmg.2015.07.003_bib41","doi-asserted-by":"crossref","first-page":"798","DOI":"10.1136\/jmg.34.10.798","article-title":"Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study","volume":"34","author":"Ryan","year":"1997","journal-title":"J.\u00a0Med. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2015.07.003_bib42","doi-asserted-by":"crossref","first-page":"366","DOI":"10.1136\/jmedgenet-2011-100721","article-title":"Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus","volume":"49","author":"Santen","year":"2012","journal-title":"J.\u00a0Med. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2015.07.003_bib43","first-page":"177","article-title":"Cleft lip and\/or palate and auricular malformations","volume":"25","author":"Suutarla","year":"2014","journal-title":"J.\u00a0Craniofac. Surg."},{"issue":"7","key":"10.1016\/j.ejmg.2015.07.003_bib44","doi-asserted-by":"crossref","first-page":"1623","DOI":"10.1002\/ajmg.a.34051","article-title":"Phenotypic variability of distal 22q11.2 copy number abnormalities","volume":"155A","author":"Tan","year":"2011","journal-title":"Am. J. Med. Genet. A"},{"issue":"4","key":"10.1016\/j.ejmg.2015.07.003_bib45","doi-asserted-by":"crossref","first-page":"397","DOI":"10.1016\/j.ejmg.2005.04.015","article-title":"Oculo-auriculo-vertebral spectrum (OAVS): clinical evaluation and severity scoring of 53 patients and proposal for a new classification","volume":"48","author":"Tasse","year":"2005","journal-title":"Eur. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2015.07.003_bib46","first-page":"345","article-title":"A\u00a0family with dominant oculoauriculovertebral spectrum","volume":"78","author":"Tasse","year":"2007","journal-title":"Am. J. Med. Genet."},{"issue":"8","key":"10.1016\/j.ejmg.2015.07.003_bib47","doi-asserted-by":"crossref","first-page":"1992","DOI":"10.1002\/ajmg.a.35918","article-title":"Oculo-auriculo-vertebral spectrum, cat eye, and distal 22q11 microdeletion syndromes: a unique double rearrangement","volume":"161","author":"Torti","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"issue":"1","key":"10.1016\/j.ejmg.2015.07.003_bib48","first-page":"27","article-title":"Autosomal dominant inherited oculo-auriculo-vertebral spectrum: report of one family","volume":"34","author":"Tsai","year":"1993","journal-title":"Zhonghua Min. Guo Xiao Er Ke Yi Xue Hui Za Zhi"},{"issue":"6","key":"10.1016\/j.ejmg.2015.07.003_bib49","doi-asserted-by":"crossref","first-page":"954","DOI":"10.1016\/j.ijporl.2014.03.024","article-title":"Microtia in the Netherlands: clinical characteristics and associated anomalies","volume":"78","author":"van Nunen","year":"2014","journal-title":"Int. J. Pediatr. Otorhinolaryngol."},{"key":"10.1016\/j.ejmg.2015.07.003_bib50","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1097\/MCD.0b013e328323a7dd","article-title":"Oculoauriculovertebral spectrum: report of nine familial cases with evidence of autosomal dominant inheritance and review of the literature","volume":"18","author":"Vendramini-Pittoli","year":"2009","journal-title":"Clin. Dysmorphol."},{"issue":"10","key":"10.1016\/j.ejmg.2015.07.003_bib51","doi-asserted-by":"crossref","first-page":"2412","DOI":"10.1002\/ajmg.a.35517","article-title":"Phenotypic variability of atypical 22q11.2 deletions not including TBX1","volume":"158A","author":"Verhagen","year":"2012","journal-title":"Am. J. Med. Genet. A"},{"issue":"1","key":"10.1016\/j.ejmg.2015.07.003_bib52","first-page":"22","article-title":"Branchial arch anomalies in trisomy 18","volume":"34","author":"Verloes","year":"1991","journal-title":"Ann. Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2015.07.003_bib53","first-page":"313","article-title":"Trisomy 9 mosaicism: another etiology for the manifestations of Goldenhar syndrome","volume":"3","author":"Wilson","year":"1983","journal-title":"J.\u00a0Craniofac. Genet. Dev. Biol."},{"issue":"14","key":"10.1016\/j.ejmg.2015.07.003_bib54","doi-asserted-by":"crossref","first-page":"1886","DOI":"10.1002\/ajmg.a.32359","article-title":"A\u00a0child with features of Goldenhar syndrome and a novel 1.12 Mb deletion in 22q11.2 by cytogenetics and oligonucleotide array CGH: is this a candidate region for the syndrome?","volume":"146A","author":"Xu","year":"2008","journal-title":"Am. J. Med. Genet. A"},{"issue":"6","key":"10.1016\/j.ejmg.2015.07.003_bib55","doi-asserted-by":"crossref","first-page":"487","DOI":"10.4161\/nucl.27364","article-title":"Implications of COMT long-range interactions on the phenotypic variability of 22q11.2 deletion syndrome","volume":"4","author":"Zeitz","year":"2013","journal-title":"Nucleus"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721215300069?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721215300069?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:42:29Z","timestamp":1761709349000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721215300069"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,9]]},"references-count":55,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2015,9]]}},"alternative-id":["S1769721215300069"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2015.07.003","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2015,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Oculo-auriculo-vertebral spectrum: Clinical and molecular analysis of 51 patients","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2015.07.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2015 Published by Elsevier Masson SAS","name":"copyright","label":"Copyright"}]}}