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Though the causes remain elusive and poorly understood in most patients, VACTERL association is thought to be due to defects in early embryogenesis and is likely genetically heterogeneous. We present data on 36 patients diagnosed with VACTERL association in addition to describing the phenotypic diversity of each component feature. Unique cases in our cohort include a patient with a 498.59 kb microdeletion in the 16p11.2 region and another with a 215 kb duplication in the 3p25.2 region. Our findings expand upon the current understanding of VACTERL association and guide future research aimed at determining its etiology.<\/jats:p>","DOI":"10.1002\/ajmg.a.40363","type":"journal-article","created":{"date-parts":[[2018,8,28]],"date-time":"2018-08-28T11:33:44Z","timestamp":1535456024000},"page":"1830-1837","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Phenotypic diversity of patients diagnosed with VACTERL association"],"prefix":"10.1002","volume":"176","author":[{"given":"Majid","family":"Husain","sequence":"first","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics University of California\u2010Irvine, School of Medicine  Irvine California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Dutra\u2010Clarke","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics University of California\u2010Irvine, School of Medicine  Irvine California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryan","family":"Lemieux","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics University of California\u2010Irvine, School of Medicine  Irvine California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Wencel","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics University of California\u2010Irvine, School of Medicine  Irvine California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8826-1023","authenticated-orcid":false,"given":"Benjamin D.","family":"Solomon","sequence":"additional","affiliation":[{"name":"GeneDx  Gaithersburg Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1567-4449","authenticated-orcid":false,"given":"Virginia","family":"Kimonis","sequence":"additional","affiliation":[{"name":"Division of Genetics and Genomic Medicine, Department of Pediatrics University of California\u2010Irvine, School of Medicine  Irvine California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2018,8,27]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00467-008-1101-x"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb00747.x"},{"issue":"4","key":"e_1_2_8_4_1","first-page":"379","article-title":"Report of a girl with vacterl syndrome and right pulmonary agenesis","volume":"20","author":"Avcu S.","year":"2009","journal-title":"Genetic Counseling (Geneva, Switzerland)"},{"issue":"4","key":"e_1_2_8_5_1","first-page":"321","article-title":"A case of VATER association associated with 9qh+","volume":"7","author":"Aynaci F. 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