{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:34:28Z","timestamp":1790832868617,"version":"4.1.0"},"reference-count":19,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,1,27]],"date-time":"2017-01-27T00:00:00Z","timestamp":1485475200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100006143","name":"Department of Science and Technology, Government of Kerala","doi-asserted-by":"publisher","award":["SB\/SO\/HS\/005\/2014"],"award-info":[{"award-number":["SB\/SO\/HS\/005\/2014"]}],"id":[{"id":"10.13039\/501100006143","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,3]]},"abstract":"<jats:sec><jats:label\/><jats:p>Smith\u2010McCort dysplasia (SMC OMIM 615222) and Dyggve\u2010Melchior\u2010Clausen dysplasia (DMC OMIM 223800) are allelic skeletal dysplasias caused by homozygous or compound heterozygous mutations in <jats:italic>DYM<\/jats:italic> (OMIM 607461). Both disorders share the same skeletal phenotypes characterized by spondylo\u2010epi\u2010metaphyseal dysplasia with distinctive lacy ilia. The difference rests on the presence or absence of intellectual disability, that is, intellectual disability in DMC and normal cognition in SMC. However, genetic heterogeneity was suspected in SMC. Recently, <jats:italic>RAB33B<\/jats:italic> (OMIM 605950) has been identified as the second gene for SMC. Nevertheless, only two affected families have been reported so far. Here we present three SMC patients with four novel pathogenic variants in <jats:italic>RAB33B<\/jats:italic>, including homozygosity for c.211C&gt;T (p.R71*), homozygosity for c.365T&gt;C (p.F122S), and compound heterozygosity for c.48delCGGGGCAG (p.G17Vfs*58) and c.490C&gt;T (p.Q164*). We also summarize the clinical, radiological, and mutation profile of <jats:italic>RAB33B<\/jats:italic> after literature mining. This report ascertains the pathogenic relationship between <jats:italic>RAB33B<\/jats:italic> and SMC. \u00a9 2017 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.38064","type":"journal-article","created":{"date-parts":[[2017,1,27]],"date-time":"2017-01-27T06:06:08Z","timestamp":1485497168000},"page":"588-595","source":"Crossref","is-referenced-by-count":21,"title":["Additional three patients with Smith\u2010McCort dysplasia due to novel <i>RAB33B<\/i> mutations"],"prefix":"10.1002","volume":"173","author":[{"given":"Smrithi","family":"Salian","sequence":"first","affiliation":[{"name":"Department of Medical Genetics, Kasturba Medical College Manipal University Manipal India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tae\u2010Joon","family":"Cho","sequence":"additional","affiliation":[{"name":"Division of Pediatric Orthopedics Seoul National University Children's Hospital Seoul 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