{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T23:44:26Z","timestamp":1780530266055,"version":"3.54.1"},"reference-count":27,"publisher":"Elsevier BV","issue":"11","license":[{"start":{"date-parts":[[2005,11,1]],"date-time":"2005-11-01T00:00:00Z","timestamp":1130803200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Pediatric Surgery"],"published-print":{"date-parts":[[2005,11]]},"DOI":"10.1016\/j.jpedsurg.2005.07.048","type":"journal-article","created":{"date-parts":[[2005,11,12]],"date-time":"2005-11-12T12:11:13Z","timestamp":1131797473000},"page":"e47-e50","source":"Crossref","is-referenced-by-count":4,"title":["Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy\u2014a case report"],"prefix":"10.1016","volume":"40","author":[{"given":"Georg","family":"Singer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Johannes","family":"Schalamon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Herwig","family":"Ainoedhofer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erwin","family":"Petek","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter M.","family":"Kroisel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E.","family":"H\u00f6llwarth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jpedsurg.2005.07.048_bib1","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1002\/1096-8628(20010201)98:4<324::AID-AJMG1103>3.0.CO;2-5","article-title":"Familial Williams-Beuren syndrome showing varying clinical expression","volume":"98","author":"Pankau","year":"2001","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib2","doi-asserted-by":"crossref","first-page":"1311","DOI":"10.1161\/01.CIR.24.6.1311","article-title":"Supravalvular aortic stenosis","volume":"24","author":"Williams","year":"1961","journal-title":"Circulation"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib3","doi-asserted-by":"crossref","first-page":"1235","DOI":"10.1161\/01.CIR.26.6.1235","article-title":"Supravalvular aortic stenosis in association with mental retardation and a certain facial appearance","volume":"26","author":"Beuren","year":"1962","journal-title":"Circulation"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib4","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1086\/376565","article-title":"Mutational mechanisms of Williams-Beuren syndrome deletions","volume":"73","author":"Bayes","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib5","first-page":"49","article-title":"Strong correlation of elastin deletions, detected by FISH, with Williams syndrome: evaluation of 235 patients","volume":"57","author":"Lowery","year":"1995","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib6","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1002\/1096-8628(200022)97:2<164::AID-AJMG8>3.0.CO;2-F","article-title":"Williams syndrome: from genotype through to the cognitive phenotype","volume":"97","author":"Donnai","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib7","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1007\/s002470000411","article-title":"Dorsolumbosacral agenesis","volume":"31","author":"Mihmanli","year":"2001","journal-title":"Pediatr Radiol"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib8","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1034\/j.1399-0004.2002.610202.x","article-title":"Genetic control of caudal development","volume":"61","author":"Catala","year":"2002","journal-title":"Clin Genet"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib9","first-page":"1","article-title":"Ureterozystoneostomie. Eine neue Antirefluxtechnik","volume":"6","author":"Cohen","year":"1975","journal-title":"Aktuelle Urol"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib10","first-page":"1021","article-title":"MR of the caudal regression syndrome: embryologic implications","volume":"15","author":"Nievelstein","year":"1994","journal-title":"AJNR Am J Neuroradiol"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib11","doi-asserted-by":"crossref","first-page":"140","DOI":"10.1002\/(SICI)1096-8628(19980630)78:2<140::AID-AJMG8>3.0.CO;2-S","article-title":"Epidemiological analysis of outcomes of pregnancy in gestational diabetic mothers","volume":"78","author":"Martinez-Frias","year":"1998","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib12","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1159\/000120670","article-title":"The embryogenesis of complex dysraphic malformations: a disorder of gastrulation?","volume":"18","author":"Dias","year":"1992","journal-title":"Pediatr Neurosurg"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib13","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1002\/1096-8628(20000904)94:1<52::AID-AJMG11>3.0.CO;2-Q","article-title":"Ring chromosome 7 and sacral agenesis","volume":"94","author":"Rodriguez","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib14","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1007\/s004310051238","article-title":"Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families","volume":"158","author":"Wang","year":"1999","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib15","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1086\/302723","article-title":"Involvement of the HLXB9 homeobox gene in Currarino syndrome","volume":"66","author":"Belloni","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib16","doi-asserted-by":"crossref","first-page":"1504","DOI":"10.1086\/302899","article-title":"Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene","volume":"66","author":"Hagan","year":"2000","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib17","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1002\/(SICI)1096-8628(20000214)90:4<270::AID-AJMG2>3.0.CO;2-R","article-title":"De novo 46,XX,t(6;7)(g27;g11;23) associated with severe cardiovascular manifestations characteristic of supravalvular aortic stenosis and Williams syndrome","volume":"90","author":"von Dadelszen","year":"2000","journal-title":"Am J Med Genet"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib18","doi-asserted-by":"crossref","first-page":"655","DOI":"10.1007\/s004310100835","article-title":"Anomalies of the abdominal aorta in Williams-Beuren syndrome\u2014another cause of arterial hypertension","volume":"160","author":"Rose","year":"2001","journal-title":"Eur J Pediatr"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib19","article-title":"Hemizygosity at the NCF1 gene in Williams-Beuren syndrome patients decreases their risk of hypertension","author":"Antonell","year":"2004"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib20","doi-asserted-by":"crossref","first-page":"2165","DOI":"10.1161\/01.CIR.103.17.2165","article-title":"Balloon dilation angioplasty of peripheral pulmonary stenosis associated with Williams syndrome","volume":"103","author":"Geggel","year":"2001","journal-title":"Circulation"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib21","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/S1050-1738(03)00065-3","article-title":"New insights into elastin and vascular disease","volume":"13","author":"Brooke","year":"2003","journal-title":"Trends Cardiovasc Med"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib22","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1126\/science.1652157","article-title":"Factor XI activation in a revised model of blood coagulation","volume":"253","author":"Gailani","year":"1991","journal-title":"Science"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib23","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1002\/ajh.10378","article-title":"Compound heterozygosity for two novel mutations in a severe factor XI deficiency","volume":"73","author":"Tsukahara","year":"2003","journal-title":"Am J Hematol"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib24","doi-asserted-by":"crossref","first-page":"683","DOI":"10.1046\/j.1365-2516.1998.440683.x","article-title":"The management of factor XI deficiency","volume":"4","author":"Bolton-Maggs","year":"1998","journal-title":"Haemophilia"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib25","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/S0049-3848(00)00404-7","article-title":"A common C\u2192T polymorphism at nt 46 in the promoter region of coagulation factor XII is associated with decreased factor XII activity","volume":"101","author":"Endler","year":"2001","journal-title":"Thromb Res"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib26","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1007\/BF01534407","article-title":"Structural gene encoding human factor XII is located at 5q33-qter","volume":"14","author":"Royle","year":"1998","journal-title":"Somat Cell Mol Genet"},{"key":"10.1016\/j.jpedsurg.2005.07.048_bib27","doi-asserted-by":"crossref","first-page":"491","DOI":"10.1002\/(SICI)1096-8628(19981228)80:5<491::AID-AJMG10>3.0.CO;2-J","article-title":"Familial Williams-Beuren syndrome","volume":"80","author":"Ounap","year":"1998","journal-title":"Am J Med Genet"}],"container-title":["Journal of Pediatric Surgery"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022346805006275?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0022346805006275?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2019,1,21]],"date-time":"2019-01-21T02:53:19Z","timestamp":1548039199000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0022346805006275"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,11]]},"references-count":27,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2005,11]]}},"alternative-id":["S0022346805006275"],"URL":"https:\/\/doi.org\/10.1016\/j.jpedsurg.2005.07.048","relation":{},"ISSN":["0022-3468"],"issn-type":[{"value":"0022-3468","type":"print"}],"subject":[],"published":{"date-parts":[[2005,11]]}}}