{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,5]],"date-time":"2025-11-05T06:55:46Z","timestamp":1762325746823,"version":"3.40.4"},"reference-count":12,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T00:00:00Z","timestamp":1695859200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2023,9,28]],"date-time":"2023-09-28T00:00:00Z","timestamp":1695859200000},"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":[[2024]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Introduction:&lt;\/i&gt;&lt;\/b&gt; Weaver syndrome (WS) is a rare autosomal dominant disorder characterized by distinctive facial features, pre- and post-natal overgrowth, macrocephaly, and variable developmental delay. The characteristic facial features are ocular hypertelorism, a broad forehead, almond-shaped palpebral fissures and, in early childhood, large, fleshy ears, a pointed \u201cstuck-on\u201d chin with horizontal skin creases, and retrognathia. Heterozygous pathogenic\/likely pathogenic variants in the enhancer of zeste homolog 2 (&lt;i&gt;EZH2&lt;\/i&gt;) gene are responsible for WS. &lt;b&gt;&lt;i&gt;Case Presentation:&lt;\/i&gt;&lt;\/b&gt; Here, we report a male patient with a heterozygous likely pathogenic variant in EZH2 gene who has tall stature, distinctive facial features, mild development delay, hypoxic-ischemic encephalopathy with a MRI finding of periventricular leukomalacia, gingival hypertrophy, and early onset high hypermetropia. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; This case demonstrates the importance of reporting detailed molecular and clinical findings in patients to expand the genotypic and phenotypic findings of this rare syndrome. <\/jats:p>","DOI":"10.1159\/000533733","type":"journal-article","created":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T21:03:05Z","timestamp":1697058185000},"page":"161-166","source":"Crossref","is-referenced-by-count":5,"title":["Expanding the Phenotypic and Genotypic Spectrum of Weaver Syndrome: A Missense Variant of the &lt;i&gt;EZH2&lt;\/i&gt; Gene"],"prefix":"10.1159","volume":"15","author":[{"given":"Yasemin","family":"Kendir-Demirkol","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Burcu","family":"Yeter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura A.","family":"Jenny","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2023,9,28]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35660"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2011.11.018"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-200X.2009.02965.x"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1007\/s00417-015-3033-z"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.47429\/lmo.2023.13.1.48"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38356"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.18632\/oncotarget.385"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36229"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62189"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-17-0631"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(74)80675-x"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/2\/161\/4188484\/000533733.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/msy\/article-pdf\/15\/2\/161\/4188484\/000533733.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T15:39:37Z","timestamp":1745422777000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000533733"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,9,28]]},"references-count":12,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,4,2]]},"published-print":{"date-parts":[[2024,3,26]]}},"URL":"https:\/\/doi.org\/10.1159\/000533733","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"type":"print","value":"1661-8769"},{"type":"electronic","value":"1661-8777"}],"subject":[],"published":{"date-parts":[[2023,9,28]]}}}