{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,7]],"date-time":"2025-10-07T05:24:31Z","timestamp":1759814671475,"version":"3.40.4"},"reference-count":0,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2017,8,12]],"date-time":"2017-08-12T00:00:00Z","timestamp":1502496000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2017,8,12]],"date-time":"2017-08-12T00:00:00Z","timestamp":1502496000000},"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":[[2018]]},"abstract":"<jats:p>Ectodermal dysplasia-syndactyly syndrome is a rare autosomal recessive congenital disorder caused by mutations in &lt;i&gt;PVRL4 &lt;\/i&gt;coding for nectin-4. Five different mutations in the &lt;i&gt;PVRL4&lt;\/i&gt; gene, including 3 homozygous missense mutations, have been reported. Here, we present an unreported missense variant (c.247C&gt;T, p.His83Tyr) in a consanguineous Turkish family.<\/jats:p>","DOI":"10.1159\/000479359","type":"journal-article","created":{"date-parts":[[2017,8,11]],"date-time":"2017-08-11T21:05:51Z","timestamp":1502485551000},"page":"22-24","source":"Crossref","is-referenced-by-count":6,"title":["A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child"],"prefix":"10.1159","volume":"9","author":[{"given":"Leila","family":"Dardour","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katrien","family":"Cosyns","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koenraad","family":"Devriendt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2017,8,12]]},"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/479359","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/479359","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:44:18Z","timestamp":1745426658000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000479359"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,8,12]]},"references-count":0,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2017,12,20]]},"published-print":{"date-parts":[[2017,12,21]]}},"URL":"https:\/\/doi.org\/10.1159\/000479359","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2017,8,12]]}}}