{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,1]],"date-time":"2026-11-01T08:05:15Z","timestamp":1793520315483,"version":"4.5.0"},"reference-count":23,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2008,6,1]],"date-time":"2008-06-01T00:00:00Z","timestamp":1212278400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":1874,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":["ajhg.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2008,6]]},"DOI":"10.1016\/j.ajhg.2008.05.006","type":"journal-article","created":{"date-parts":[[2008,5,30]],"date-time":"2008-05-30T09:41:54Z","timestamp":1212140514000},"page":"1368-1374","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":95,"title":["Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis"],"prefix":"10.1016","volume":"82","author":[{"given":"Pia","family":"Hermanns","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sheila","family":"Unger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Perez-Aytes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hector","family":"Cortina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luisa","family":"Bonaf\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Loredana","family":"Boccone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Setzu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Dutoit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luca","family":"Sangiorgi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Pecora","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerstin","family":"Reicherter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J\u00fcrgen","family":"Spranger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bernhard","family":"Zabel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Superti-Furga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.ajhg.2008.05.006_bib1","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1016\/j.chembiol.2004.11.020","article-title":"Structural insights into biological roles of protein-glycosaminoglycan interactions","volume":"12","author":"Raman","year":"2005","journal-title":"Chem. Biol."},{"key":"10.1016\/j.ajhg.2008.05.006_bib2","doi-asserted-by":"crossref","first-page":"10155","DOI":"10.1073\/pnas.0400334101","article-title":"Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement","volume":"101","author":"Thiele","year":"2004","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.ajhg.2008.05.006_bib3","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1002\/ajmg.a.20606","article-title":"Spondyloepiphyseal dysplasia Omani type: A new recessive type of SED with progressive spinal involvement","volume":"126","author":"Rajab","year":"2004","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.ajhg.2008.05.006_bib4","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1016\/S0022-3476(50)80268-8","article-title":"Multiple congenital dislocations associated with characteristic facial abnormality","volume":"37","author":"Larsen","year":"1950","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ajhg.2008.05.006_bib5","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/S0022-3476(71)80014-8","article-title":"Larsen's syndrome: A skeletal dysplasia with multiple joint dislocations and unusual facies","volume":"78","author":"Latta","year":"1971","journal-title":"J. Pediatr."},{"key":"10.1016\/j.ajhg.2008.05.006_bib6","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/ng1319","article-title":"Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis","volume":"36","author":"Krakow","year":"2004","journal-title":"Nat. Genet."},{"key":"10.1016\/j.ajhg.2008.05.006_bib7","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1097\/01241398-199401000-00014","article-title":"Larsen's syndrome: Review of the literature and analysis of thirty-eight cases","volume":"14","author":"Laville","year":"1994","journal-title":"J. Pediatr. Orthop."},{"key":"10.1016\/j.ajhg.2008.05.006_bib8","first-page":"465","article-title":"Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndrome","volume":"29","author":"Bonaventure","year":"1992","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2008.05.006_bib9","first-page":"407","article-title":"Humero-spinal dysostosis with congenital heart disease","volume":"127","author":"Kozlowski","year":"1974","journal-title":"Am. J. Dis. Child."},{"key":"10.1016\/j.ajhg.2008.05.006_bib10","doi-asserted-by":"crossref","first-page":"188","DOI":"10.1007\/BF00973833","article-title":"Humero-spinal dysostosis","volume":"8","author":"Cortina","year":"1979","journal-title":"Pediatr. Radiol."},{"key":"10.1016\/j.ajhg.2008.05.006_bib11","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1097\/01202412-199701000-00003","article-title":"Humero-spinal dysostosis: Report of the fourth case with emphasis on generalized skeletal involvement, abnormal craniofacial features, and mitral valve thickening","volume":"6","author":"Hall","year":"1997","journal-title":"J. Pediatr. Orthop. B"},{"key":"10.1016\/j.ajhg.2008.05.006_bib12","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1016\/S0009-9260(05)81977-4","article-title":"Case report: Humero-spinal dysostosis","volume":"49","author":"Sparks","year":"1994","journal-title":"Clin. Radiol."},{"key":"10.1016\/j.ajhg.2008.05.006_bib13","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1016\/S0945-053X(98)90088-9","article-title":"Proteoglycan sulfation in cartilage and cell cultures from patients with sulfate transporter chondrodysplasias: Relationship to clinical severity and indications on the role of intracellular sulfate production","volume":"17","author":"Rossi","year":"1998","journal-title":"Matrix Biol."},{"key":"10.1016\/j.ajhg.2008.05.006_bib14","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1042\/bj2410591","article-title":"beta-D-xylosides and their analogues as artificial initiators of glycosaminoglycan chain synthesis. Aglycone-related variation in their effectiveness in vitro and in ovo","volume":"241","author":"Sobue","year":"1987","journal-title":"Biochem. J."},{"key":"10.1016\/j.ajhg.2008.05.006_bib15","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1136\/jmg.2006.043687","article-title":"A molecular and clinical study of Larsen syndrome caused by mutations in FLNB","volume":"44","author":"Bicknell","year":"2007","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.ajhg.2008.05.006_bib16","doi-asserted-by":"crossref","first-page":"682","DOI":"10.1007\/BF01356836","article-title":"Vertebral anomalies in Larsen's syndrome","volume":"26","author":"Weisenbach","year":"1996","journal-title":"Pediatr. Radiol."},{"key":"10.1016\/j.ajhg.2008.05.006_bib17","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1007\/s00247-002-0660-4","article-title":"Congenital distal humeral dysplasia: A case report","volume":"33","author":"Joseph","year":"2003","journal-title":"Pediatr. Radiol."},{"key":"10.1016\/j.ajhg.2008.05.006_bib18","doi-asserted-by":"crossref","first-page":"1443","DOI":"10.1074\/jbc.M104719200","article-title":"Functional analysis of the chondroitin 6-sulfotransferase gene in relation to lymphocyte subpopulations, brain development, and oversulfated chondroitin sulfates","volume":"277","author":"Uchimura","year":"2002","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.ajhg.2008.05.006_bib19","doi-asserted-by":"crossref","first-page":"3349","DOI":"10.1093\/hmg\/ddg366","article-title":"Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns\u2212\/\u2212) produced by targeted disruption of the gene defective in Morquio A disease","volume":"12","author":"Tomatsu","year":"2003","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2008.05.006_bib20","doi-asserted-by":"crossref","first-page":"859","DOI":"10.1093\/hmg\/ddi079","article-title":"A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: Morphological and biochemical characterization of the resulting chondrodysplasia phenotype","volume":"14","author":"Forlino","year":"2005","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.ajhg.2008.05.006_bib21","doi-asserted-by":"crossref","first-page":"3989","DOI":"10.1242\/dev.01948","article-title":"Maintenance of chondroitin sulfation balance by chondroitin-4-sulfotransferase 1 is required for chondrocyte development and growth factor signaling during cartilage morphogenesis","volume":"132","author":"Kluppel","year":"2005","journal-title":"Development"},{"key":"10.1016\/j.ajhg.2008.05.006_bib22","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1002\/humu.1","article-title":"Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance","volume":"17","author":"Rossi","year":"2001","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.ajhg.2008.05.006_bib23","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1016\/S0960-9822(95)00044-3","article-title":"The importance of being sulphated","volume":"5","author":"Wallis","year":"1995","journal-title":"Curr. Biol."}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929708003157?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929708003157?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,2,7]],"date-time":"2024-02-07T20:00:54Z","timestamp":1707336054000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929708003157"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,6]]},"references-count":23,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2008,6]]}},"alternative-id":["S0002929708003157"],"URL":"https:\/\/doi.org\/10.1016\/j.ajhg.2008.05.006","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2008,6]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Congenital Joint Dislocations Caused by Carbohydrate Sulfotransferase 3 Deficiency in Recessive Larsen Syndrome and Humero-Spinal Dysostosis","name":"articletitle","label":"Article Title"},{"value":"The American Journal of Human Genetics","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ajhg.2008.05.006","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2008 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}