{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T18:19:29Z","timestamp":1790705969697,"version":"4.1.0"},"reference-count":17,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"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":[[2010]]},"abstract":"<jats:p>Waardenburg syndrome (WS) is a genetic disorder characterized primarily by depigmentation of the skin and hair, heterochromia of the irides, sensorineural deafness, and sometimes by dystopia canthorum, and Hirschsprung disease. WS presents a large clinical and genetic heterogeneity. Four different types have been individualized and linked to 5 different genes. We report 2 cases of WS type II and 1 case of WS type IV from Lebanon and Syria. The genetic studies revealed 2 novel mutations in the &lt;i&gt;MITF&lt;\/i&gt; gene of the WS type II cases and 1 novel homozygous mutation in the &lt;i&gt;EDNRB&lt;\/i&gt; gene of the WS type IV case. This is the first molecular study of patients from the Arab world. Additional cases will enable a more detailed description of the clinical spectrum of Waardenburg syndrome in this region.<\/jats:p>","DOI":"10.1159\/000322891","type":"journal-article","created":{"date-parts":[[2011,1,10]],"date-time":"2011-01-10T10:40:53Z","timestamp":1294656053000},"page":"169-175","source":"Crossref","is-referenced-by-count":17,"title":["Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the &lt;i&gt;EDNRB&lt;\/i&gt; and &lt;i&gt;MITF&lt;\/i&gt; Genes"],"prefix":"10.1159","volume":"1","author":[{"given":"N.M.","family":"Haddad","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Ente","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Chouery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Jalkh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Mehawej","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.","family":"Khoueir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V.","family":"Pingault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"M\u00e9garban\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2011,1,10]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F4.12.2407"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038%2F355637a0"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1086%2F522090"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1055%2Fs-2008-1066521"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1038%2Fnrg775"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0496-442"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0496-445"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1322"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320550123"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1017%2FS002221510011196X"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1038%2Fng0298-171"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002%2Fhumu.21211"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016%2F0092-8674%2894%2990016-7"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.34.8.656"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1038%2F355635a0"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038%2Fng1194-251"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1089%2F1066527041410418"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/322891","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/322891","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:15:38Z","timestamp":1745435738000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000322891"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010]]},"references-count":17,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2011,1,1]]},"published-print":{"date-parts":[[2011,1,10]]}},"URL":"https:\/\/doi.org\/10.1159\/000322891","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010]]}}}