{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T01:06:14Z","timestamp":1791162374503,"version":"4.1.0"},"reference-count":8,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2006,6,1]],"date-time":"2006-06-01T00:00:00Z","timestamp":1149120000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/2.0"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"published-print":{"date-parts":[[2006,12]]},"DOI":"10.1186\/1750-1172-1-20","type":"journal-article","created":{"date-parts":[[2006,6,1]],"date-time":"2006-06-01T17:07:20Z","timestamp":1149181640000},"source":"Crossref","is-referenced-by-count":71,"title":["Congenital contractural arachnodactyly (Beals syndrome)"],"prefix":"10.1186","volume":"1","author":[{"given":"Erg\u00fcl","family":"Tun\u00e7bilek","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasemin","family":"Alanay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2006,6,1]]},"reference":[{"key":"20_CR1","doi-asserted-by":"publisher","first-page":"9","DOI":"10.1136\/jmg.37.1.9","volume":"37","author":"PN Robinson","year":"2000","unstructured":"Robinson PN, Godfrey M: The molecular genetics of Marfan syndrome and related microfibrillopathies. J Med Genet. 2000, 37: 9-25. 10.1136\/jmg.37.1.9.","journal-title":"J Med Genet"},{"key":"20_CR2","doi-asserted-by":"publisher","first-page":"570","DOI":"10.1111\/j.1399-0004.1985.tb02042.x","volume":"27","author":"MA Ramos Arroyo","year":"1985","unstructured":"Ramos Arroyo MA, Weaver DD, Beals RK: Congenital contractural arachnodactyly: report of four additional families and review of literature. Clin Genet. 1985, 27: 570-581.","journal-title":"Clin Genet"},{"key":"20_CR3","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1002\/humu.10017","volume":"19","author":"PA Gupta","year":"2002","unstructured":"Gupta PA, Putnam EA, Carmical SG, Kaitila I, Steinmann B, Child A, Danesino C, Metcalfe K, Berry SA, Chen E, Delorme CV, Thong MK, Ades LC, Milewicz DM: Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype. Hum Mutat. 2002, 19: 39-48. 10.1002\/humu.10017.","journal-title":"Hum Mutat"},{"key":"20_CR4","doi-asserted-by":"crossref","first-page":"987","DOI":"10.2106\/00004623-197153050-00013","volume":"53A","author":"RK Beals","year":"1971","unstructured":"Beals RK, Hecht F: Congenital contractural arachnodactyly: a heritable disorder of connective tissue. J Bone Joint Surg. 1971, 53A: 987-593.","journal-title":"J Bone Joint Surg"},{"key":"20_CR5","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1007\/s10384-004-0106-7","volume":"48","author":"S Takaesu-Miyagi","year":"2004","unstructured":"Takaesu-Miyagi S, Sakai H, Shiroma T, Hayakawa K, Funakoshi Y, Sawaguchi S: Ocular findings of Beals syndrome. Jpn J Ophthalmol. 2004, 48: 470-474. 10.1007\/s10384-004-0106-7.","journal-title":"Jpn J Ophthalmol"},{"key":"20_CR6","doi-asserted-by":"publisher","first-page":"41","DOI":"10.1055\/s-2004-820509","volume":"21","author":"S Kupeli","year":"2004","unstructured":"Kupeli S, Korkmaz A, Bulun A, Yurdakok M, Tuncbilek E: Congenital contractural arachnodactyly and femoral fracture in a newborn infant: a causal relationship or a coincidence?. Am J Perinatol. 2004, 21: 41-44. 10.1055\/s-2004-820509.","journal-title":"Am J Perinatol"},{"key":"20_CR7","first-page":"1027","volume":"59","author":"M Wang","year":"1996","unstructured":"Wang M, Clericuzio CL, Godfrey M: Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2. Am J Hum Genet. 1996, 59: 1027-1034.","journal-title":"Am J Hum Genet"},{"key":"20_CR8","first-page":"818","volume":"60","author":"EA Putnam","year":"1997","unstructured":"Putnam EA, Park ES, Aalfs CM, Hennekam RC, Milewicz DM: Parental somatic and germ-line mosaicism for a FBN2 mutation and analysis of FBN2 transcript levels in dermal fibroblasts. Am J Hum Genet. 1997, 60: 818-827.","journal-title":"Am J Hum Genet"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1750-1172-1-20.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1750-1172-1-20\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1750-1172-1-20.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,1,22]],"date-time":"2019-01-22T21:15:13Z","timestamp":1548191713000},"score":1,"resource":{"primary":{"URL":"https:\/\/ojrd.biomedcentral.com\/articles\/10.1186\/1750-1172-1-20"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,6,1]]},"references-count":8,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2006,12]]}},"alternative-id":["20"],"URL":"https:\/\/doi.org\/10.1186\/1750-1172-1-20","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,6,1]]},"article-number":"20"}}