{"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":1793520315986,"version":"4.5.0"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2009,3,23]],"date-time":"2009-03-23T00:00:00Z","timestamp":1237766400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2009,4]]},"abstract":"<jats:p>We describe a family with progressive skeletal dysplasia and severe spinal involvement, short stature, premature arthrosis and joint contractures diagnosed as spondyloepiphyseal dysplasia Omani type. Mutation analysis in <jats:italic>CHST3<\/jats:italic>, the gene encoding for the chondroitin 6\u2010<jats:italic>O<\/jats:italic>\u2010sulfotransferase\u20101 (C6ST\u20101), revealed a homozygous missense mutation (T141M) in exon 3 in all three affected members of the family. Using recombinant C6ST\u20101, we showed that the identified missense mutation results in a reduction of C6ST\u20101 activity to 24\u201329% of the wild type protein. In addition to the previously noted skeletal features, affected members of this family also had cardiac involvement including mitral, tricuspid and\/or aortic regurgitations and type E brachydactyly.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2009.01167.x","type":"journal-article","created":{"date-parts":[[2009,3,23]],"date-time":"2009-03-23T04:38:02Z","timestamp":1237783082000},"page":"375-383","source":"Crossref","is-referenced-by-count":58,"title":["Omani\u2010type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in <i>CHST3<\/i>"],"prefix":"10.1111","volume":"75","author":[{"given":"B","family":"Tuysuz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Mizumoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Sugahara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"\u00c7elebi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Mundlos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Turkmen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2009,4,15]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1086\/377110"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31483"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/glycob\/12.4.57R"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-440X(00)00125-1"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.272.33.20603"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960503)63:1<144::AID-AJMG25>3.0.CO;2-N"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.2174\/0929867053363144"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20606"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0400334101"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(98)01532-4"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M306044200"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32482"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2008.05.006"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2009.01167.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2009.01167.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,29]],"date-time":"2023-09-29T07:17:21Z","timestamp":1695971841000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2009.01167.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,4]]},"references-count":14,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,4]]}},"alternative-id":["10.1111\/j.1399-0004.2009.01167.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2009.01167.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2009,4]]}}}