{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T17:43:01Z","timestamp":1767980581774,"version":"3.49.0"},"reference-count":16,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2017,11,1]],"date-time":"2017-11-01T00:00:00Z","timestamp":1509494400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"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":[[2017,11]]},"DOI":"10.1016\/j.ejmg.2017.08.006","type":"journal-article","created":{"date-parts":[[2017,8,12]],"date-time":"2017-08-12T06:31:38Z","timestamp":1502519498000},"page":"578-582","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome"],"prefix":"10.1016","volume":"60","author":[{"given":"Javad","family":"Jamshidi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shokoufeh","family":"Abdollahi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hamid","family":"Ghaedi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elham","family":"Alehabib","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abbas","family":"Tafakhori","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Somayeh","family":"Alinaghi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjan","family":"Chapi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amir Hossein","family":"Johari","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hossein","family":"Darvish","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.ejmg.2017.08.006_bib1","doi-asserted-by":"crossref","first-page":"92","DOI":"10.1016\/j.ajhg.2010.12.002","article-title":"Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome","volume":"88","author":"Abouzeid","year":"2011","journal-title":"Am. J. Hum. Genet."},{"issue":"6","key":"10.1016\/j.ejmg.2017.08.006_bib2","doi-asserted-by":"crossref","first-page":"2946","DOI":"10.1021\/pr901110q","article-title":"Secretome analysis of human BMSCs and identification of SMOC1 as an important ECM protein in osteoblast differentiation","volume":"9","author":"Choi","year":"2010","journal-title":"J.\u00a0Proteome Res."},{"issue":"2","key":"10.1016\/j.ejmg.2017.08.006_bib3","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1002\/(SICI)1096-8628(20000117)90:2<173::AID-AJMG17>3.0.CO;2-N","article-title":"Waardenburg anophthalmia syndrome: report and review","volume":"90","author":"Cogulu","year":"2000","journal-title":"Am. J. Med. Genet."},{"issue":"11","key":"10.1016\/j.ejmg.2017.08.006_bib4","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1177\/0883073807307100","article-title":"Anophthalmia-Waardenburg syndrome with expanding phenotype: does neural crest play a role?","volume":"22","author":"Galasso","year":"2007","journal-title":"J.\u00a0child neurology"},{"issue":"4","key":"10.1016\/j.ejmg.2017.08.006_bib5","first-page":"449","article-title":"Anophthalmos with limb anomalies (Waardenburg opththalmo-acromelic syndrome): report of a new Italian case with renal anomaly and review","volume":"17","author":"Garavelli","year":"2006","journal-title":"Genet. Couns."},{"issue":"3","key":"10.1016\/j.ejmg.2017.08.006_bib6","doi-asserted-by":"crossref","first-page":"336","DOI":"10.1002\/ajmg.a.32656","article-title":"A\u00a0locus for ophthalmo-acromelic syndrome mapped to 10p11.23","volume":"149A","author":"Hamanoue","year":"2009","journal-title":"Am. J. Med. Genet. Part A"},{"issue":"7","key":"10.1016\/j.ejmg.2017.08.006_bib7","doi-asserted-by":"crossref","first-page":"1543","DOI":"10.1002\/ajmg.a.35983","article-title":"Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies","volume":"161A","author":"Kondo","year":"2013","journal-title":"Am. J. Med. Genet. Part A"},{"issue":"1","key":"10.1016\/j.ejmg.2017.08.006_bib8","doi-asserted-by":"crossref","first-page":"30","DOI":"10.1016\/j.ajhg.2010.11.012","article-title":"SMOC1 is essential for ocular and limb development in humans and mice","volume":"88","author":"Okada","year":"2011","journal-title":"Am. J. Hum. Genet."},{"issue":"1","key":"10.1016\/j.ejmg.2017.08.006_bib9","doi-asserted-by":"crossref","first-page":"19","DOI":"10.3109\/13816818409009889","article-title":"A\u00a0syndrome with true anophthalmia, hand-foot defects and mental retardation","volume":"4","author":"Pallotta","year":"1984","journal-title":"Ophthalmic Paediatr. Genet."},{"issue":"11","key":"10.1016\/j.ejmg.2017.08.006_bib10","doi-asserted-by":"crossref","first-page":"2877","DOI":"10.1002\/dvdy.22124","article-title":"Developmental expression of Smoc1 and Smoc2 suggests potential roles in fetal gonad and reproductive tract differentiation","volume":"238","author":"Pazin","year":"2009","journal-title":"Dev. Dyn."},{"issue":"3","key":"10.1016\/j.ejmg.2017.08.006_bib11","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1097\/00019605-199507000-00014","article-title":"Ophthalmo acromelic syndrome","volume":"4","author":"Quarrell","year":"1995","journal-title":"Clin. Dysmorphol."},{"issue":"7","key":"10.1016\/j.ejmg.2017.08.006_bib12","doi-asserted-by":"crossref","first-page":"e1002114","DOI":"10.1371\/journal.pgen.1002114","article-title":"Loss of the BMP antagonist, SMOC-1, causes Ophthalmo-acromelic (Waardenburg Anophthalmia) syndrome in humans and mice","volume":"7","author":"Rainger","year":"2011","journal-title":"PLoS Genet."},{"issue":"4","key":"10.1016\/j.ejmg.2017.08.006_bib13","doi-asserted-by":"crossref","first-page":"607","DOI":"10.1002\/ajmg.1320140403","article-title":"Brief clinical report: autosomal recessive anophthalmia with multiple congenital abnormalities\u2013type Waardenburg","volume":"14","author":"Richieri-Costa","year":"1983","journal-title":"Am. J. Med. Genet."},{"issue":"2","key":"10.1016\/j.ejmg.2017.08.006_bib14","doi-asserted-by":"crossref","first-page":"150","DOI":"10.1002\/(SICI)1096-8628(20000117)90:2<150::AID-AJMG12>3.0.CO;2-C","article-title":"Ophthalmo-acromelic syndrome: report and review","volume":"90","author":"Tekin","year":"2000","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.ejmg.2017.08.006_bib15","first-page":"1","article-title":"A\u00a0novel homozygous variant in the SMOC1 gene underlying Waardenburg anophthalmia syndrome","author":"Ullah","year":"2017","journal-title":"Ophthalmic Genet."},{"key":"10.1016\/j.ejmg.2017.08.006_bib16","series-title":"Autosomally-recessive Anophthalmia with Malformations of the Hands and Feet. PJ Waardenburg AFaDK","author":"Waardenburg","year":"1961"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217301908?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721217301908?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:44:49Z","timestamp":1761709489000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721217301908"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,11]]},"references-count":16,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2017,11]]}},"alternative-id":["S1769721217301908"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.08.006","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2017,11]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2017.08.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2017 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}