{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T03:12:48Z","timestamp":1790651568745,"version":"4.1.0"},"reference-count":7,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2021]]},"abstract":"<jats:p>Treacher Collins syndrome (TCS) is a heterogenous malformation syndrome characterized by a distinct facial appearance including downslanting palpebral fissures, malar hypoplasia, conductive hearing loss, and mandibular hypoplasia. Recently, a new causative gene, &lt;i&gt;POLR1B&lt;\/i&gt;, encoding DNA-directed RNA polymerase I subunit RPA2, was identified as a fourth type of TCS (TCS4). We describe another patient with TCS4 caused by a recurrent &lt;i&gt;POLR1B&lt;\/i&gt; variant, c.3007C&amp;#x3e;T; p.Arg1003Cys. Including our patient, all 4 patients with p.(Arg1003Cys) had atresia of the external auditory canal and microtia. All of the reported pathogenic variants in &lt;i&gt;POLR1B&lt;\/i&gt; were clustered at only 2 residues. Our patient highlights the genotype-phenotype correlation in TCS4 associated with &lt;i&gt;POLR1B&lt;\/i&gt;. <\/jats:p>","DOI":"10.1159\/000513224","type":"journal-article","created":{"date-parts":[[2021,3,29]],"date-time":"2021-03-29T21:05:38Z","timestamp":1617051938000},"page":"127-132","source":"Crossref","is-referenced-by-count":9,"title":["A Recurrent Variant in &lt;b&gt;&lt;i&gt;POLR1B&lt;\/i&gt;&lt;\/b&gt;, c.3007C&amp;#x3e;T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4"],"prefix":"10.1159","volume":"12","author":[{"given":"Yumi","family":"Enomoto","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoshinori","family":"Tsurusaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makiko","family":"Tominaga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinji","family":"Kobayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maki","family":"Inoue","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazutoshi","family":"Fujita","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tatsuro","family":"Kumaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6646-6263","authenticated-orcid":false,"given":"Hiroaki","family":"Murakami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6817-7748","authenticated-orcid":false,"given":"Kenji","family":"Kurosawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2021,3,2]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.724"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1006187"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-019-0669-9"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201260"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.29"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23798"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32404"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/513224","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/513224","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:12:07Z","timestamp":1745424727000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000513224"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021]]},"references-count":7,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2021,4,22]]},"published-print":{"date-parts":[[2021,5,21]]}},"URL":"https:\/\/doi.org\/10.1159\/000513224","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021]]}}}