{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T10:26:01Z","timestamp":1761733561849,"version":"build-2065373602"},"reference-count":22,"publisher":"Elsevier BV","issue":"9","license":[{"start":{"date-parts":[[2014,9,1]],"date-time":"2014-09-01T00:00:00Z","timestamp":1409529600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2014,9,1]],"date-time":"2014-09-01T00:00:00Z","timestamp":1409529600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"name":"The Spanish Ministry of Health \u2013 Fondo de Investigaci\u00f3n Sanitaria (FIS)","award":["Ref.#PI12\/01318"],"award-info":[{"award-number":["Ref.#PI12\/01318"]}]},{"name":"Diputaci\u00f3n General de Arag\u00f3n (Grupo Consolidado B20)"},{"name":"European Social Fund (Construyendo Europa desde Arag\u00f3n)"},{"name":"Spanish Ministry of Economy and Competitivity"},{"DOI":"10.13039\/100008666","name":"Fundaci\u00f3 La Marat\u00f3 de TV3","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100008666","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":[[2014,9]]},"DOI":"10.1016\/j.ejmg.2014.05.006","type":"journal-article","created":{"date-parts":[[2014,5,27]],"date-time":"2014-05-27T02:30:58Z","timestamp":1401157858000},"page":"503-509","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":8,"title":["Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation"],"prefix":"10.1016","volume":"57","author":[{"given":"Carolina","family":"Baquero-Montoya","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda-Concepci\u00f3n","family":"Gil-Rodr\u00edguez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda","family":"Hern\u00e1ndez-Marcos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda-Esperanza","family":"Teresa-Rodrigo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alicia","family":"Vicente-Gabas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mar\u00eda-Luisa","family":"Bernal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cesar-Horacio","family":"Casale","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gloria","family":"Bueno-Lozano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"In\u00e9s","family":"Bueno-Mart\u00ednez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ethel","family":"Queralt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olaya","family":"Villa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cristina","family":"Hernando-Davalillo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Llu\u00eds","family":"Armengol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulino","family":"G\u00f3mez-Puertas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beatriz","family":"Puisac","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Angelo","family":"Selicorni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Feliciano J.","family":"Ramos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juan","family":"Pi\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2014.05.006_bib1","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1097\/MCD.0b013e328330209b","article-title":"Roberts syndrome: facial dysmorphology in a mildly affected case","volume":"18","author":"Ahmed","year":"2009","journal-title":"Clin Dysmorphol"},{"key":"10.1016\/j.ejmg.2014.05.006_bib2","doi-asserted-by":"crossref","first-page":"2953","DOI":"10.1002\/ajmg.a.35623","article-title":"A\u00a0new report of Cornelia de Lange syndrome associated with split hand and feet","volume":"158A","author":"Barboni","year":"2012","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.ejmg.2014.05.006_bib3","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1136\/jmg.2005.038240","article-title":"Genotype-phenotype correlations of 39 patients with Cornelia de Lange syndrome: the Dutch experience","volume":"43","author":"Bhuiyan","year":"2006","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.ejmg.2014.05.006_bib4","doi-asserted-by":"crossref","first-page":"485","DOI":"10.1086\/511888","article-title":"Mutations in cohesin complex members SMC3 and SMC1A cause a mild variant of Cornelia de Lange syndrome with predominant mental retardation","volume":"80","author":"Deardorff","year":"2007","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.05.006_bib5","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1016\/j.ajhg.2012.04.019","article-title":"RAD21 mutations cause a human cohesinopathy","volume":"90","author":"Deardorff","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.05.006_bib6","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1038\/nature11316","article-title":"HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle","volume":"489","author":"Deardorff","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.ejmg.2014.05.006_bib7","first-page":"221","article-title":"Bilateral split feet: a new finding in Cornelia de Lange syndrome","volume":"21","author":"Dogan","year":"2010","journal-title":"Genet Couns"},{"key":"10.1016\/j.ejmg.2014.05.006_bib8","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1086\/424698","article-title":"NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations","volume":"75","author":"Gillis","year":"2004","journal-title":"Am J Hum Genet"},{"issue":"5","key":"10.1016\/j.ejmg.2014.05.006_bib9","doi-asserted-by":"crossref","first-page":"339","DOI":"10.1136\/jmedgenet-2012-101477","article-title":"High rate of mosaicim in individuals with Cornelia de Lange syndrome","volume":"50","author":"Huisman","year":"2013","journal-title":"J\u00a0Med Genet"},{"key":"10.1016\/j.ejmg.2014.05.006_bib10","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1002\/ajmg.a.31757","article-title":"Cornelia de Lange syndrome: clinical review, diagnostic and scoring systems, and anticipatory guidance","volume":"143A","author":"Kline","year":"2007","journal-title":"Am J Med Genet Part A"},{"key":"10.1016\/j.ejmg.2014.05.006_bib11","doi-asserted-by":"crossref","first-page":"631","DOI":"10.1038\/ng1364","article-title":"Cornelia de Lange syndrome is caused by mutations in NIPBL, the human homolog of Drosophila melanogaster Nipped-B","volume":"36","author":"Krantz","year":"2004","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejmg.2014.05.006_bib12","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1111\/j.1399-0004.2009.01271.x","article-title":"Cornelia de Lange syndrome, cohesin, and beyond","volume":"76","author":"Liu","year":"2009","journal-title":"Clin Genet"},{"key":"10.1016\/j.ejmg.2014.05.006_bib13","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1038\/ng1779","article-title":"X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations","volume":"38","author":"Musio","year":"2006","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejmg.2014.05.006_bib15","doi-asserted-by":"crossref","first-page":"1216","DOI":"10.1002\/humu.21352","article-title":"Development of NIPBL locus-specific database using LOVD: from novel mutations to further genotype-phenotype correlations in Cornelia de Lange Syndrome","volume":"31","author":"Oliveira","year":"2010","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ejmg.2014.05.006_bib16","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1016\/j.ejmg.2012.11.002","article-title":"Split-hand\/foot malformation with long-bone deficiency and BHLHA9 duplication: two cases and expansion of the phenotype to radial agenesis","volume":"56","author":"Petit","year":"2013","journal-title":"Eur J Med Genet"},{"key":"10.1016\/j.ejmg.2014.05.006_bib17","doi-asserted-by":"crossref","first-page":"1014","DOI":"10.1002\/ajmg.1320470715","article-title":"Hemimelia in Brachmann-de Lange syndrome (BDLS): a patient with severe deficiency of the upper and lower limbs","volume":"47","author":"Pfeiffer","year":"1993","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.ejmg.2014.05.006_bib18","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1002\/ajmg.a.33348","article-title":"Mutations and variants in the cohesion factor genes NIPBL, SMC1A, and SMC3 in a cohort of 30 unrelated patients with Cornelia de Lange syndrome","volume":"152A","author":"Pi\u00e9","year":"2010","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.ejmg.2014.05.006_bib19","first-page":"118","article-title":"Orthopaedic manifestations of Brachmann-de Lange syndrome: a report of 34 patients","volume":"13","author":"Roposch","year":"2004","journal-title":"J\u00a0Pediatr Orthop B"},{"key":"10.1016\/j.ejmg.2014.05.006_bib20","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/sj.ejhg.5201737","article-title":"Comprehensive mutational analysis of a cohort of Swedish Cornelia de Lange syndrome patients","volume":"15","author":"Schoumans","year":"2007","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.05.006_bib21","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/j.1399-0004.2007.00832.x","article-title":"Clinical score of 62 Italian patients with Cornelia de Lange syndrome and correlations with the presence and type of NIPBL mutation","volume":"72","author":"Selicorni","year":"2007","journal-title":"Clin Genet"},{"key":"10.1016\/j.ejmg.2014.05.006_bib22","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1038\/ng1363","article-title":"NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome","volume":"36","author":"Tonkin","year":"2004","journal-title":"Nat Genet"},{"key":"10.1016\/j.ejmg.2014.05.006_bib23","doi-asserted-by":"crossref","first-page":"748","DOI":"10.1038\/nrg906","article-title":"Mechanisms and consequences of somatic mosaicism in humans","volume":"3","author":"Youssoufian","year":"2002","journal-title":"Nat Rev Genet"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721214001189?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721214001189?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:41:11Z","timestamp":1761709271000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721214001189"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,9]]},"references-count":22,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2014,9]]}},"alternative-id":["S1769721214001189"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2014.05.006","relation":{},"ISSN":["1769-7212"],"issn-type":[{"type":"print","value":"1769-7212"}],"subject":[],"published":{"date-parts":[[2014,9]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Severe ipsilateral musculoskeletal involvement in a Cornelia de Lange patient with a novel NIPBL mutation","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2014.05.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2014 Elsevier Masson SAS. All rights reserved.","name":"copyright","label":"Copyright"}]}}