{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T04:55:53Z","timestamp":1768971353596,"version":"3.49.0"},"reference-count":14,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2023,1,1]],"date-time":"2023-01-01T00:00:00Z","timestamp":1672531200000},"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"],"published-print":{"date-parts":[[2023]]},"abstract":"<jats:p>Introduction: Biallelic variants in the SCL35D1 gene have been originally associated with a severe skeletal dysplasia called \u201cSchneckenbecken dysplasia\u201d because of the resemblance of the pelvic shape to a snail. More recently, SLC35D1 variants have been associated with much milder phenotypes of skeletal dysplasia. Our report describes one such individual with a novel SLC35D1 variant. Case Presentation: A 17-year-old male with a coarse face and short stature was referred to our clinic. On his radiographic imaging, shortness of the long bones and metaphyseal flaring were detected. Using a clinical exome panel, we discovered a novel homozygous missense variant in the SLC35D1 gene, c.899G&amp;gt;T (p.Gly300Val). Conclusions: We identified a biallelic variant that was causative for a mild skeletal dysplasia and showed its phenotypic effects. Our observation confirms the existence of nonlethal skeletal dysplasias associated with biallelic SLC35D1 variants and suggests the existence of a phenotypic spectrum. <\/jats:p>","DOI":"10.1159\/000530798","type":"journal-article","created":{"date-parts":[[2023,7,10]],"date-time":"2023-07-10T10:35:33Z","timestamp":1688985333000},"page":"498-503","source":"Crossref","is-referenced-by-count":2,"title":["A Mild Skeletal Dysplasia Caused by a Biallelic Missense Variant in the SLC35D1 Gene"],"prefix":"10.1159","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8714-4768","authenticated-orcid":false,"given":"Tuna Eren","family":"Esen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00d6zlem \u00dcnal","family":"Uzun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4938-3420","authenticated-orcid":false,"given":"Ahmet Cevdet","family":"Ceylan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2023,6,7]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250107"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320400429"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.065201"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/BF00194254"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/nm1655"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s00424-003-1093-0"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/s0014-5793(01)02358-4"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s002470000357"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62939"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddz200"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.63132"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/uog.1115"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2018.07.004"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/doi\/10.1159\/000530798\/3927148\/000530798.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/doi\/10.1159\/000530798\/3927148\/000530798.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:28:07Z","timestamp":1745422087000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000530798"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023]]},"references-count":14,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2023,12,5]]},"published-print":{"date-parts":[[2023,12,5]]}},"URL":"https:\/\/doi.org\/10.1159\/000530798","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023]]}}}