{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,27]],"date-time":"2026-05-27T21:16:42Z","timestamp":1779916602651,"version":"3.53.1"},"reference-count":18,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T00:00:00Z","timestamp":1713225600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T00:00:00Z","timestamp":1713225600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"abstract":"<jats:p>Introduction: Linkeropathies are a group of rare multi-systemic genetic disorders primarily affecting the skeletal and cardiac systems due to defects in the enzymes responsible for proteoglycan synthesis. Case Presentation: We present a case of two siblings with the B3GAT3 variant. The 14-year-old boy exhibited short stature, severe kyphoscoliosis, splenomegaly, and aortic root dilatation, along with several physical abnormalities including bifid uvula, blue sclera, limited elbow extension, and pectus carinatum. His 6-year-old sister also exhibited comparable yet less pronounced physical features. Clinical exome sequencing analysis revealed a homozygous c.416C&amp;gt;T variant in the B3GAT3 gene for the sister; the same variant was also present in the boy patient. The boy underwent preoperative halo-gravity traction for severe kyphoscoliosis, followed by posterior instrumentation and fusion surgery without complications. Discussion\/Conclusion: B3GAT3-related linkeropathy syndrome is a rare disorder and we further expand the clinical spectrum with novel findings. <\/jats:p>","DOI":"10.1159\/000537869","type":"journal-article","created":{"date-parts":[[2024,4,16]],"date-time":"2024-04-16T21:00:31Z","timestamp":1713301231000},"page":"409-420","source":"Crossref","is-referenced-by-count":1,"title":["A Recurrent c.416C&gt;T Variant in the B3GAT3 Gene in the Turkish Population: Report of Two Siblings and Expanding the Clinical Spectrum"],"prefix":"10.1159","volume":"15","author":[{"given":"Tu\u011fba","family":"Da\u015far","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdulkerim","family":"Kolk\u0131ran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abdullah","family":"Sezer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ercan","family":"Bal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esra","family":"K\u0131l\u0131\u00e7","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2024,4,16]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.04.003"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36487"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37209"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-016-0344-9"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/s0959-440x(00)00125-1"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.3390\/genes10090631"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2021.104342"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-019-1110-9"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-022-01160-9"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63132"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12885"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.5152\/TurkArchPediatr.2022.21097"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.05.021"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2019-106700"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2017.109"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1155\/2017\/3941483"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-015-1549-2"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-016-1660-z"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/5\/409\/4284169\/000537869.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/5\/409\/4284169\/000537869.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:07:06Z","timestamp":1745420826000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000537869"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4,16]]},"references-count":18,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2024,10,1]]},"published-print":{"date-parts":[[2024,10,2]]}},"URL":"https:\/\/doi.org\/10.1159\/000537869","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,4,16]]}}}