{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,27]],"date-time":"2026-03-27T18:23:57Z","timestamp":1774635837558,"version":"3.50.1"},"reference-count":11,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2012,5,1]],"date-time":"2012-05-01T00:00:00Z","timestamp":1335830400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"Fundaci\u00f3n Conchita R\u00e1bago de J\u00edmenez D\u00edaz"},{"name":"Fundacion Ram\u00f3n Areces","award":["4715\/001"],"award-info":[{"award-number":["4715\/001"]}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"crossref","award":["06\/07\/0036"],"award-info":[{"award-number":["06\/07\/0036"]}],"id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gene"],"published-print":{"date-parts":[[2012,5]]},"DOI":"10.1016\/j.gene.2012.02.030","type":"journal-article","created":{"date-parts":[[2012,3,6]],"date-time":"2012-03-06T02:13:38Z","timestamp":1331000018000},"page":"223-225","source":"Crossref","is-referenced-by-count":11,"title":["Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings"],"prefix":"10.1016","volume":"499","author":[{"given":"Milena","family":"Peraita-Ezcurra","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00f3nica","family":"Mart\u00ednez-Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00edctor L.","family":"Ruiz-P\u00e9rez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Eugenia","family":"S\u00e1nchez-Guti\u00e9rrez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Fenollar-Cort\u00e9s","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camilo","family":"V\u00e9lez-Monsalve","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carmen","family":"Ramos-Corrales","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ignacio","family":"Pastor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carlos","family":"Santonja","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda Jos\u00e9","family":"Trujillo-Tiebas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.gene.2012.02.030_bb0005","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1186\/1741-7007-9-14","article-title":"Evc2 is a positive modulator of Hedgehog signalling that interacts with EvC at the cilia membrane and is also found in the nucleus","volume":"9","author":"Blair","year":"2011","journal-title":"BMC Biol."},{"key":"10.1016\/j.gene.2012.02.030_bb0010","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1136\/adc.15.82.65","article-title":"A syndrome characterized by ectodermal dysplasia, polydactyly, chondrodysplasia, and congenital morbus cordis: report of three cases","volume":"5","author":"Ellis","year":"1940","journal-title":"Arch. Dis. Child."},{"key":"10.1016\/j.gene.2012.02.030_bb0015","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1002\/(SICI)1097-0223(199909)19:9<879::AID-PD646>3.0.CO;2-S","article-title":"Ellis-van Creveld syndrome: examination at 15 weeks\u00b4 gestation","volume":"19","author":"Guschmann","year":"1999","journal-title":"Prenat. Diagn."},{"key":"10.1016\/j.gene.2012.02.030_bb0020","first-page":"306","article-title":"Dwarfism in the Amish I. The Ellis-van Creveld syndrome","volume":"115","author":"McKusick","year":"1964","journal-title":"Bull. Johns Hopkins Hosp."},{"issue":"4","key":"10.1016\/j.gene.2012.02.030_bb0025","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1002\/ajmg.1320450416","article-title":"Skeletal histopathology in fetuses with chondroectodermal dysplasia (Ellis-van Creveld syndrome)","volume":"45","author":"Qureshi","year":"1993","journal-title":"Am. J. Med. Genet."},{"key":"10.1016\/j.gene.2012.02.030_bb0030","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1038\/73508","article-title":"Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis","volume":"24","author":"Ruiz-Perez","year":"2000","journal-title":"Nat. Genet."},{"key":"10.1016\/j.gene.2012.02.030_bb0035","doi-asserted-by":"crossref","first-page":"931","DOI":"10.1002\/humu.20778","article-title":"L1-mediated deletion of EVC, EVC2, C4ORF6 and STK32 B in Ellis-Van Creveld syndrome with borderline intelligence","volume":"29","author":"Temtamy","year":"2008","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2012.02.030_bb0040","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1007\/s00439-006-0237-7","article-title":"Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients","volume":"120","author":"Tompson","year":"2007","journal-title":"Hum. Genet."},{"issue":"12","key":"10.1016\/j.gene.2012.02.030_bb0045","doi-asserted-by":"crossref","first-page":"1667","DOI":"10.1002\/humu.21117","article-title":"Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling","volume":"30","author":"Valencia","year":"2009","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.gene.2012.02.030_bb0050","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1093\/ejo\/18.4.313","article-title":"Chondroectodermal dysplasia (Ellis-van Creveld syndrome): a case report","volume":"18","author":"Varela","year":"1996","journal-title":"Eur. J. Orthod."},{"key":"10.1016\/j.gene.2012.02.030_bb0055","first-page":"1423","article-title":"Skeletal system: osteochondrodysplasias and dysostoses","volume":"Vol. 2","author":"Yang","year":"1997"}],"container-title":["Gene"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111912002326?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0378111912002326?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,11,25]],"date-time":"2018-11-25T08:59:09Z","timestamp":1543136349000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0378111912002326"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,5]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2012,5]]}},"alternative-id":["S0378111912002326"],"URL":"https:\/\/doi.org\/10.1016\/j.gene.2012.02.030","relation":{},"ISSN":["0378-1119"],"issn-type":[{"value":"0378-1119","type":"print"}],"subject":[],"published":{"date-parts":[[2012,5]]}}}