{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:43:12Z","timestamp":1790516592342,"version":"4.1.0"},"reference-count":20,"publisher":"S. Karger AG","issue":"6","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"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":[[2019]]},"abstract":"<jats:p>Myhre syndrome is a rare autosomal dominant multisystemic disorder. Typical features of this disorder include distinctive facial appearance, deafness, intellectual disability, cardiovascular abnormalities, short stature, brachydactyly, and skeletal anomalies. Gain-of-function mutations in the &lt;i&gt;SMAD4&lt;\/i&gt; gene are responsible for this syndrome. Herein, we present a 9.6-year-old Turkish girl with molecularly confirmed Myhre syndrome who had novel findings including bilateral Axenfield Rieger anomaly with secondary glaucoma and bilateral enlarged vestibular aqueducts.<\/jats:p>","DOI":"10.1159\/000504829","type":"journal-article","created":{"date-parts":[[2019,12,19]],"date-time":"2019-12-19T22:00:33Z","timestamp":1576792833000},"page":"339-343","source":"Crossref","is-referenced-by-count":15,"title":["Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome"],"prefix":"10.1159","volume":"10","author":[{"given":"Semra","family":"G\u00fcrsoy","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filiz","family":"Hazan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T\u00fclay","family":"\u00d6zt\u00fcrk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Halil","family":"Ate\u015f","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2019,12,20]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2017.07.042"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38560"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.201905-0922IM"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2018.12.023"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-019-04015-y"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.7.546"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36544"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.11.791"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000188"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-016-2761-3"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.survophthal.2006.02.006"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1097\/MAO.0000000000000314"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12365"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.18240\/ijo.2016.07.02"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37739"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.288"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01798.x"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1111\/ped.13413"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200104000-00011"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000271"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/504829","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/504829","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:14:52Z","timestamp":1745424892000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000504829"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"references-count":20,"journal-issue":{"issue":"6","published-online":{"date-parts":[[2020,1,21]]},"published-print":{"date-parts":[[2020,1,29]]}},"URL":"https:\/\/doi.org\/10.1159\/000504829","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019]]}}}