{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T03:00:16Z","timestamp":1778641216671,"version":"3.51.4"},"reference-count":15,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2019,12,17]],"date-time":"2019-12-17T00:00:00Z","timestamp":1576540800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2019,12,17]],"date-time":"2019-12-17T00:00:00Z","timestamp":1576540800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Rep Ophthalmol"],"abstract":"<jats:p>We report the case of a girl with a novel mutation of the &lt;i&gt;COL4A&lt;\/i&gt; gene (c.2716+2T&amp;#x3e;C) presenting microcephaly, parenchymal hemorrhages, lissencephaly, and bilateral cataracts, associated with agenesis of the corpus callosum and hypoplasia of the optic nerve. &lt;i&gt;COL4A1&lt;\/i&gt;, located on chromosome 13, encodes the \u03b11 chain of type IV collagen, a key component of the basement membrane in various organs, such as eye, brain, kidneys, and muscles. Different mutations have been described and may remain asymptomatic or determine porencephaly, cerebral hemorrhages, renal cysts, hematuria, and dysgenesis of the anterior segment of the eye.<\/jats:p>","DOI":"10.1159\/000505017","type":"journal-article","created":{"date-parts":[[2019,12,17]],"date-time":"2019-12-17T22:00:36Z","timestamp":1576620036000},"page":"424-430","source":"Crossref","is-referenced-by-count":4,"title":["Optic Nerve Hypoplasia, Corpus Callosum Agenesis, Cataract, and Lissencephaly in a Neonate with a Novel &lt;b&gt;&lt;i&gt;COL4A1&lt;\/i&gt;&lt;\/b&gt; Mutation"],"prefix":"10.1159","volume":"10","author":[{"given":"Lisa","family":"Grego","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Pignatto","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nicol\u00f2","family":"Rassu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"Passone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Cogo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paolo","family":"Lanzetta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2019,12,17]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2016.04.010"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1097\/WCO.0b013e32834232c6"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajo.2012.11.028"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.210"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1159\/000360532"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds436"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159\/000431309"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2011.04198.x"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds346"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2016.12.008"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1055\/s-0032-1325116"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12379"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-014-0097-2"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1038\/jp.2013.135"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1681\/ASN.2014121217"}],"container-title":["Case Reports in Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/505017","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/505017","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T16:16:48Z","timestamp":1745425008000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000505017"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,12,17]]},"references-count":15,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2019,12,20]]}},"URL":"https:\/\/doi.org\/10.1159\/000505017","archive":["Portico"],"relation":{},"ISSN":["1663-2699"],"issn-type":[{"value":"1663-2699","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,12,17]]}}}