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Stickler syndrome type I (ocular form) is caused by mutation in the<jats:italic>COL2A1<\/jats:italic>gene. Ptosis and uveitis are relatively rare ophthalmological manifestations of this syndrome. We report an Indian boy having 2710C&gt;T mutation in<jats:italic>COL2A1<\/jats:italic>gene demonstrating short stature, ptosis, and uveitis with Stickler syndrome.<\/jats:p>","DOI":"10.1155\/2016\/3198597","type":"journal-article","created":{"date-parts":[[2016,11,28]],"date-time":"2016-11-28T21:13:32Z","timestamp":1480367612000},"page":"1-3","source":"Crossref","is-referenced-by-count":2,"title":["Stickler Syndrome Type 1 with Short Stature and Atypical Ocular Manifestations"],"prefix":"10.1155","volume":"2016","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7064-7617","authenticated-orcid":true,"given":"Manisha","family":"Goyal","sequence":"first","affiliation":[{"name":"Rare Disease Clinic, Department of Pediatrics, SMS Medical College, Jaipur, Rajasthan, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seema","family":"Kapoor","sequence":"additional","affiliation":[{"name":"Division of Genetics & Metabolism, Department of Pediatrics, Maulana Azad Medical College, New Delhi, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiro","family":"Ikegawa","sequence":"additional","affiliation":[{"name":"Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gen","family":"Nishimura","sequence":"additional","affiliation":[{"name":"Department of Paediatric Imaging, Tokyo Metropolitan Children\u2019s Medical Center, Fuchu, Tokyo, Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"2","first-page":"433","volume":"40","year":"1965","journal-title":"Mayo Clinic Proceedings."},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1097\/00125817-200105000-00008"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35303"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320420316"},{"issue":"125","key":"6","first-page":"32","year":"1977","journal-title":"Clinical Orthopaedics and Related Research"},{"issue":"2","key":"7","first-page":"144","volume":"129","year":"2004","journal-title":"American Journal of Medical Genetics"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.1097\/00007632-200102150-00017"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1096-8628(19981102)80:1<6::aid-ajmg2>3.0.co;2-0"},{"issue":"5","key":"10","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1136\/jmg.36.5.353","volume":"36","year":"1999","journal-title":"Journal of Medical Genetics"},{"key":"11","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaapos.2011.03.008"},{"issue":"1","key":"12","first-page":"8","volume":"3","year":"2013","journal-title":"International Journal of Basic and Applied Medical Sciences"}],"container-title":["Case Reports in Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2016\/3198597.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2016\/3198597.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2016\/3198597.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T02:51:30Z","timestamp":1692586290000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/cripe\/2016\/3198597\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":11,"alternative-id":["3198597","3198597"],"URL":"https:\/\/doi.org\/10.1155\/2016\/3198597","relation":{},"ISSN":["2090-6803","2090-6811"],"issn-type":[{"type":"print","value":"2090-6803"},{"type":"electronic","value":"2090-6811"}],"subject":[],"published":{"date-parts":[[2016]]}}}