{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T12:57:05Z","timestamp":1790081825481,"version":"4.0.1"},"reference-count":27,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2018,5,1]],"date-time":"2018-05-01T00:00:00Z","timestamp":1525132800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2018,5,1]],"date-time":"2018-05-01T00:00:00Z","timestamp":1525132800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2019,4,3]],"date-time":"2019-04-03T00:00:00Z","timestamp":1554249600000},"content-version":"vor","delay-in-days":337,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100001807","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de S\u00e3o Paulo","doi-asserted-by":"publisher","award":["2012\/51799-6"],"award-info":[{"award-number":["2012\/51799-6"]}],"id":[{"id":"10.13039\/501100001807","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","award":["460422\/2014-6"],"award-info":[{"award-number":["460422\/2014-6"]}],"id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]}],"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":[[2018,5]]},"DOI":"10.1016\/j.ejmg.2017.12.013","type":"journal-article","created":{"date-parts":[[2017,12,27]],"date-time":"2017-12-27T13:26:03Z","timestamp":1514381163000},"page":"262-268","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":28,"title":["Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review"],"prefix":"10.1016","volume":"61","author":[{"given":"Samira","family":"Spineli-Silva","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luciana M.","family":"Bispo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1288-0554","authenticated-orcid":false,"given":"Vera L.","family":"Gil-da-Silva-Lopes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00e1rsis P.","family":"Vieira","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.ejmg.2017.12.013_bib1","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1038\/nbt1203","article-title":"Gene prioritization through genomic data fusion","volume":"24","author":"Aerts","year":"2006","journal-title":"Nat. Biotechnol."},{"issue":"4","key":"10.1016\/j.ejmg.2017.12.013_bib2","first-page":"ZD17","article-title":"Goldenhar syndrome - review with case series","volume":"8","author":"Ashokan","year":"2014","journal-title":"J. Clin. Diagn. Res."},{"issue":"8","key":"10.1016\/j.ejmg.2017.12.013_bib3","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.2017.12.013_bib4","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. Med. Genet."},{"issue":"9","key":"10.1016\/j.ejmg.2017.12.013_bib5","doi-asserted-by":"crossref","first-page":"455","DOI":"10.1016\/j.ejmg.2015.07.003","article-title":"Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients","volume":"58","author":"Beleza-Meireles","year":"2015","journal-title":"Eur. J. Med. Genet."},{"issue":"9","key":"10.1016\/j.ejmg.2017.12.013_bib6","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1038\/ejhg.2017.101","article-title":"A novel de novo mutation in MYT1, the unique OAVS gene identified so far","volume":"25","author":"Berenguer","year":"2017","journal-title":"Eur. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2017.12.013_bib7","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1159\/000438708","article-title":"22q11.21 deletion syndromes: a review of proximal, central, and distal deletions and their associated features","volume":"146","author":"Burnside","year":"2015","journal-title":"Cytogenet. Genome Res."},{"issue":"2\u20133","key":"10.1016\/j.ejmg.2017.12.013_bib8","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1159\/000444228","article-title":"Atypical 581-kb 22q11.21 deletion in a patient with oculo-auriculo-vertebral spectrum phenotype","volume":"147","author":"Colovati","year":"2015","journal-title":"Cytogenet. Genome Res."},{"issue":"2","key":"10.1016\/j.ejmg.2017.12.013_bib9","doi-asserted-by":"crossref","first-page":"129","DOI":"10.1002\/ajmg.a.10832","article-title":"Chromosome 22q11.2 deletion and phenotypic features in 30 patients with conotruncal heart defects","volume":"116A","author":"Derbent","year":"2003","journal-title":"Am. J. Med. Genet. A"},{"issue":"12","key":"10.1016\/j.ejmg.2017.12.013_bib10","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"},{"issue":"2","key":"10.1016\/j.ejmg.2017.12.013_bib11","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1002\/ajmg.a.36231","article-title":"Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum","volume":"164A","author":"Dos Santos","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"issue":"1","key":"10.1016\/j.ejmg.2017.12.013_bib12","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1161\/CIRCRESAHA.115.303300","article-title":"HIC2 is a novel dosage-dependent regulator of cardiac development located within the distal 22q11 deletion syndrome region","volume":"115","author":"Dykes","year":"2014","journal-title":"Circ. Res."},{"issue":"7","key":"10.1016\/j.ejmg.2017.12.013_bib13","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1046\/j.1365-2443.2001.00445.x","article-title":"Ypel1: a novel nuclear protein that induces an epithelial-like morphology in fibroblasts","volume":"6","author":"Farlie","year":"2001","journal-title":"Gene Cell."},{"issue":"2","key":"10.1016\/j.ejmg.2017.12.013_bib14","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1007\/s00439-007-0386-3","article-title":"High-density single nucleotide polymorphism array analysis in patients with germline deletions of 22q11.2 and malignant rhabdoid tumor","volume":"122","author":"Jackson","year":"2007","journal-title":"Hum. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2017.12.013_bib15","doi-asserted-by":"crossref","first-page":"106","DOI":"10.1159\/000452815","article-title":"Deletion of TOP3B is associated with cognitive impairment and facial dysmorphism","volume":"150","author":"Kaufman","year":"2016","journal-title":"Cytogenet. Genome Res."},{"issue":"12","key":"10.1016\/j.ejmg.2017.12.013_bib16","doi-asserted-by":"crossref","first-page":"2855","DOI":"10.1002\/ajmg.a.33119","article-title":"Goldenhar phenotype in a child with distal 22q11.2 deletion and intracranial atypical teratoid rhabdoid tumor","volume":"149A","author":"Lafay-Cousin","year":"2009","journal-title":"Am. J. Med. Genet. A"},{"issue":"44","key":"10.1016\/j.ejmg.2017.12.013_bib17","doi-asserted-by":"crossref","first-page":"17115","DOI":"10.1073\/pnas.0805239105","article-title":"Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development","volume":"105","author":"Newbern","year":"2008","journal-title":"Proc. Natl. Acad. Sci. U S A"},{"issue":"8","key":"10.1016\/j.ejmg.2017.12.013_bib18","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"},{"issue":"1","key":"10.1016\/j.ejmg.2017.12.013_bib19","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1590\/S0104-42302010000100018","article-title":"Oculo-auriculo-vertebral spectrum and cardiac malformations","volume":"56","author":"Rosa","year":"2010","journal-title":"Rev. Assoc. Med. Bras"},{"issue":"11","key":"10.1016\/j.ejmg.2017.12.013_bib20","doi-asserted-by":"crossref","first-page":"2707","DOI":"10.1002\/ajmg.a.36711","article-title":"Central 22q11.2 deletions","volume":"164A","author":"Rump","year":"2014","journal-title":"Am. J. Med. Genet. A"},{"issue":"3","key":"10.1016\/j.ejmg.2017.12.013_bib21","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1590\/1516-3180.2013.7762204","article-title":"Clinical and cytogenetic features of a Brazilian sample of patients with phenotype of oculo-auriculo-vertebral spectrum: a cross-sectional study","volume":"133","author":"Silva","year":"2015","journal-title":"Sao Paulo Med. J."},{"issue":"7","key":"10.1016\/j.ejmg.2017.12.013_bib22","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":"8","key":"10.1016\/j.ejmg.2017.12.013_bib23","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1002\/dvdy.24299","article-title":"YPEL1 overexpression in early avian craniofacial mesenchyme causes mandibular dysmorphogenesis by up-regulating apoptosis","volume":"244","author":"Tan","year":"2015","journal-title":"Dev. Dynam."},{"issue":"8","key":"10.1016\/j.ejmg.2017.12.013_bib24","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":"161A","author":"Torti","year":"2013","journal-title":"Am. J. Med. Genet. A"},{"issue":"14","key":"10.1016\/j.ejmg.2017.12.013_bib25","doi-asserted-by":"crossref","first-page":"1886","DOI":"10.1002\/ajmg.a.32359","article-title":"A child 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"},{"key":"10.1016\/j.ejmg.2017.12.013_bib26","unstructured":"ONLINE MENDELIAN INHERITANCE IN MAN (OMIM) - https:\/\/www.ncbi.nlm.nih.gov\/omim\/."},{"key":"10.1016\/j.ejmg.2017.12.013_bib27","unstructured":"UCSC Genome Browser \u2013 http:\/\/genome.ucsc.edu\/."}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217305426?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217305426?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:45:54Z","timestamp":1761709554000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721217305426"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,5]]},"references-count":27,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2018,5]]}},"alternative-id":["S1769721217305426"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.12.013","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2018,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Distal deletion at 22q11.2 as differential diagnosis in Craniofacial Microsomia: Case report and literature review","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.12.013","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Masson SAS.","name":"copyright","label":"Copyright"}]}}