{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,19]],"date-time":"2026-02-19T11:37:53Z","timestamp":1771501073913,"version":"3.50.1"},"reference-count":14,"publisher":"Elsevier BV","issue":"1","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"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":[[2015,1]]},"DOI":"10.1016\/j.ejmg.2014.11.001","type":"journal-article","created":{"date-parts":[[2014,11,18]],"date-time":"2014-11-18T05:58:08Z","timestamp":1416290288000},"page":"47-50","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability"],"prefix":"10.1016","volume":"58","author":[{"given":"Bertrand","family":"Isidor","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Albert","family":"David","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ejmg.2014.11.001_bib1","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1002\/ajmg.a.36248","article-title":"TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia","volume":"164","author":"Alanay","year":"2014","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.ejmg.2014.11.001_bib2","first-page":"65","volume":"17","author":"Helmi","year":"1980","journal-title":"Cleft Palate J"},{"key":"10.1016\/j.ejmg.2014.11.001_bib3","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1002\/ajmg.a.30968","article-title":"Familial vertebral segmentation defects, Sprengel anomaly, and omovertebral bone with variable expressivity","volume":"138","author":"Kaissi","year":"2005","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.ejmg.2014.11.001_bib4","doi-asserted-by":"crossref","first-page":"442","DOI":"10.1007\/BF02012444","article-title":"Short stature, mental retardation, craniosynostosis, Klippel-Feil syndrome, Scheuerman kyphosis, rib gaps and other distinctive skeletal and genital anomalies. A new syndrome?","volume":"23","author":"Kozlowski","year":"1993","journal-title":"Pediatr Radiol"},{"key":"10.1016\/j.ejmg.2014.11.001_bib12","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1038\/nature03837","article-title":"Neural crest origins of the neck and shoulder","volume":"436","author":"Matsuoka","year":"2005","journal-title":"Nature"},{"issue":"6","key":"10.1016\/j.ejmg.2014.11.001_bib5","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1038\/sj.ejhg.5200987","article-title":"Mutations in PAX1 may be associated with Klippel-Feil syndrome","volume":"11","author":"McGaughran","year":"2003","journal-title":"Eur J Hum Genet"},{"key":"10.1016\/j.ejmg.2014.11.001_bib6","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.ajhg.2012.11.016","article-title":"Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly","volume":"92","author":"Mohamed","year":"2013","journal-title":"Am J Hum Genet"},{"issue":"3","key":"10.1016\/j.ejmg.2014.11.001_bib13","first-page":"249","article-title":"Craniofacial characteristics of Klippel-Feil syndrome in an eight year old female","volume":"24","author":"Ozdiler","year":"2000","journal-title":"J Clin Pediatr Dent"},{"key":"10.1016\/j.ejmg.2014.11.001_bib7","first-page":"316","article-title":"Two cases of Klippel-Feil syndrome associated with severe mental subnormality","volume":"28","author":"Peters","year":"1962","journal-title":"Radiography"},{"key":"10.1016\/j.ejmg.2014.11.001_bib8","doi-asserted-by":"crossref","first-page":"1017","DOI":"10.1002\/humu.20741","article-title":"Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome","volume":"29","author":"Tassabehji","year":"2008","journal-title":"Hum Mutat"},{"key":"10.1016\/j.ejmg.2014.11.001_bib9","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1097\/01.blo.0000130267.49895.20","article-title":"Klippel-Feil syndrome: clinical features and current understanding of etiology","volume":"424","author":"Tracy","year":"2004","journal-title":"Clin Orthop Relat Res"},{"issue":"5","key":"10.1016\/j.ejmg.2014.11.001_bib14","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1007\/s00381-004-0968-5","article-title":"Isolated atlantal stenosis in a patient with idiopathic growth hormone deficiency, and Klippel-Feil and Duane's syndromes","volume":"21","author":"Tubbs","year":"2005","journal-title":"Childs Nerv Syst"},{"issue":"107","key":"10.1016\/j.ejmg.2014.11.001_bib10","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1073\/pnas.0908457107","article-title":"Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation","volume":"5","author":"Xin","year":"2010","journal-title":"Proc Natl Acad Sci"},{"key":"10.1016\/j.ejmg.2014.11.001_bib11","doi-asserted-by":"crossref","first-page":"287","DOI":"10.1093\/hmg\/ddp496","article-title":"Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies","volume":"19","author":"Ye","year":"2010","journal-title":"Hum Molec Genet"}],"container-title":["European Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721214002043?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1769721214002043?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T03:41:25Z","timestamp":1761709285000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1769721214002043"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,1]]},"references-count":14,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2015,1]]}},"alternative-id":["S1769721214002043"],"URL":"https:\/\/doi.org\/10.1016\/j.ejmg.2014.11.001","relation":{},"ISSN":["1769-7212"],"issn-type":[{"value":"1769-7212","type":"print"}],"subject":[],"published":{"date-parts":[[2015,1]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Two girls with short stature, short neck, vertebral anomalies, Sprengel deformity and intellectual disability","name":"articletitle","label":"Article Title"},{"value":"European Journal of Medical Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ejmg.2014.11.001","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"}]}}