{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T04:23:22Z","timestamp":1791519802594,"version":"4.3.4"},"reference-count":18,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2018,4,14]],"date-time":"2018-04-14T00:00:00Z","timestamp":1523664000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001411","name":"Indian Council of Medical Research","doi-asserted-by":"publisher","award":["BMS 54\/2\/2013"],"award-info":[{"award-number":["BMS 54\/2\/2013"]}],"id":[{"id":"10.13039\/501100001411","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,7]]},"abstract":"<jats:p>The location and\/or type of variants in <jats:italic>FLNB<\/jats:italic> result in a spectrum of osteochondrodysplasias ranging from mild forms, like spondylocarpotarsal synostosis syndrome and Larsen syndrome, to severe perinatal lethal forms, such as atelosteogenesis I and III and Boomerang dysplasia. Spondylocarpotarsal synostosis syndrome is characterized by disproportionate short stature, vertebral anomalies and fusion of carpal and tarsal bones. Biallelic loss\u2010of\u2010function variants in <jats:italic>FLNB<\/jats:italic> are known to cause spondylocarpotarsal synostosis syndrome and 9 families and 9 pathogenic variants have been reported so far. We report clinical features of 10 additional patients from 7 families with spondylocarpotarsal synostosis syndrome due to 7 novel deleterious variants in <jats:italic>FLNB<\/jats:italic>, thus expanding the clinical and molecular repertoire of spondylocarpotarsal synostosis syndrome. Our report validates key clinical (fused thoracic vertebrae and carpal and tarsal coalition) and molecular (truncating variants in <jats:italic>FLNB<\/jats:italic>) characteristics of this condition.<\/jats:p>","DOI":"10.1111\/cge.13252","type":"journal-article","created":{"date-parts":[[2018,3,22]],"date-time":"2018-03-22T18:14:10Z","timestamp":1521742450000},"page":"159-164","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Seven additional families with spondylocarpotarsal synostosis syndrome with novel biallelic deleterious variants in <i>FLNB<\/i>"],"prefix":"10.1111","volume":"94","author":[{"given":"S.","family":"Salian","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College Manipal Academy of Higher Education  Manipal Karnataka 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