{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T20:35:07Z","timestamp":1777581307833,"version":"3.51.4"},"reference-count":7,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2021,7,27]],"date-time":"2021-07-27T00:00:00Z","timestamp":1627344000000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Ophthalmology"],"published-print":{"date-parts":[[2022,11]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose:<\/jats:title>\n                    <jats:p>To report a case of pleiotropy in the COL2A1 gene typically associated with Stickler Syndrome Type 1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Observations:<\/jats:title>\n                    <jats:p>A patient with a confirmed mutation of the COL2A1 gene presented with an isolated retinitis pigmentosa phenotype.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions:<\/jats:title>\n                    <jats:p>The mutated COL2A1 gene in Stickler Syndrome Type 1 represents a site of pleiotropy, highlighting a change in phenotype across the same genotype potentially due to tissue alternative splicing.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/11206721211035611","type":"journal-article","created":{"date-parts":[[2021,7,27]],"date-time":"2021-07-27T07:43:50Z","timestamp":1627371830000},"page":"NP10-NP12","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":1,"title":["Pleiotropy of a Stickler syndrome genotype"],"prefix":"10.1177","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1158-3534","authenticated-orcid":false,"given":"Ahmad","family":"Baiyasi","sequence":"first","affiliation":[{"name":"Wayne State University School of Medicine, Detroit, MI, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joshua","family":"Barbosa","sequence":"additional","affiliation":[{"name":"Ophthalmology, Kresge Eye Institute & Wayne State University, Detroit, MI, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anthony","family":"Parendo","sequence":"additional","affiliation":[{"name":"Ophthalmology, Kresge Eye Institute & Wayne State University, Detroit, MI, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xihui","family":"Lin","sequence":"additional","affiliation":[{"name":"Ophthalmology, Kresge Eye Institute & Wayne State University, Detroit, MI, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2021,7,27]]},"reference":[{"key":"bibr1-11206721211035611","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.2007.125666"},{"key":"bibr2-11206721211035611","doi-asserted-by":"publisher","DOI":"10.3390\/jpm10030105"},{"key":"bibr3-11206721211035611","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22915"},{"key":"bibr4-11206721211035611","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.04.001"},{"key":"bibr5-11206721211035611","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200301000-00004"},{"key":"bibr6-11206721211035611","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.36.5.353"},{"key":"bibr7-11206721211035611","doi-asserted-by":"publisher","DOI":"10.1016\/j.oret.2020.01.007"}],"container-title":["European Journal of Ophthalmology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11206721211035611","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/11206721211035611","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/11206721211035611","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T19:44:46Z","timestamp":1777405486000},"score":1,"resource":{"primary":{"URL":"http:\/\/journals.sagepub.com\/doi\/10.1177\/11206721211035611"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,27]]},"references-count":7,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2022,11]]}},"alternative-id":["10.1177\/11206721211035611"],"URL":"https:\/\/doi.org\/10.1177\/11206721211035611","relation":{},"ISSN":["1120-6721","1724-6016"],"issn-type":[{"value":"1120-6721","type":"print"},{"value":"1724-6016","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,27]]}}}