{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T13:52:39Z","timestamp":1791553959404,"version":"4.3.4"},"reference-count":10,"publisher":"BMJ","issue":"10","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2026,9,26]]},"published-print":{"date-parts":[[2026,10]]},"DOI":"10.1136\/bcr-2026-275386","type":"journal-article","created":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T13:30:23Z","timestamp":1791552623000},"page":"e275386","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the genetic spectrum of brittle cornea syndrome"],"prefix":"10.1136","volume":"19","author":[{"given":"Mitali Vijay","family":"Mangoli","sequence":"first","affiliation":[{"name":"Cornea and Anterior Segment Service, LV Prasad Eye Institute, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5454-4826","authenticated-orcid":false,"given":"Sikha","family":"Misra","sequence":"additional","affiliation":[{"name":"Cornea and Anterior Segment Service, LV Prasad Eye Institute, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7178-1412","authenticated-orcid":false,"given":"Smruti Rekha","family":"Priyadarshini","sequence":"additional","affiliation":[{"name":"Cornea and Anterior Segment Service, LV Prasad Eye Institute, Bhubaneswar, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2026,10,9]]},"reference":[{"key":"2026100906301712000_19.10.e275386.1","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.2147\/OPTH.S185287","article-title":"Brittle cornea syndrome: current perspectives","volume":"13","author":"Walkden","year":"2019","journal-title":"Clin Ophthalmol"},{"key":"2026100906301712000_19.10.e275386.2","doi-asserted-by":"crossref","first-page":"509","DOI":"10.1016\/j.jaapos.2014.06.013","article-title":"Brittle cornea syndrome: a case report and comparison with Ehlers Danlos syndrome","volume":"18","author":"Ramappa","year":"2014","journal-title":"J AAPOS"},{"key":"2026100906301712000_19.10.e275386.3","doi-asserted-by":"crossref","DOI":"10.1186\/1750-1172-8-68","article-title":"Brittle cornea syndrome: recognition, molecular diagnosis and management","volume":"8","author":"Burkitt Wright","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"2026100906301712000_19.10.e275386.4","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.09-4251"},{"key":"2026100906301712000_19.10.e275386.5","doi-asserted-by":"crossref","DOI":"10.3390\/diagnostics15131596","article-title":"Brittle cornea syndrome: molecular diagnosis and management","volume":"15","author":"Zeppieri","year":"2025","journal-title":"Diagnostics (Basel)"},{"key":"2026100906301712000_19.10.e275386.6","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1002\/ajmg.a.20326","article-title":"Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): report on 23 patients and review of the literature","volume":"124A","author":"Al-Hussain","year":"2004","journal-title":"Am J Med Genet A"},{"key":"2026100906301712000_19.10.e275386.7","doi-asserted-by":"crossref","first-page":"294","DOI":"10.1007\/s00223-020-00721-3","article-title":"Whole-exome sequencing identifies novel compound heterozygous ZNF469 mutations in two siblings with mild brittle cornea syndrome","volume":"107","author":"Rolvien","year":"2020","journal-title":"Calcif Tissue Int"},{"key":"2026100906301712000_19.10.e275386.8","doi-asserted-by":"crossref","first-page":"711","DOI":"10.1002\/humu.24199","article-title":"More than meets the eye: expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome","volume":"42","author":"Dhooge","year":"2021","journal-title":"Hum Mutat"},{"key":"2026100906301712000_19.10.e275386.9","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1097\/01.ico.0000244878.38621.fc","article-title":"Outcomes of epikeratoplasty for advanced keratoglobus","volume":"26","author":"Javadi","year":"2007","journal-title":"Cornea"},{"key":"2026100906301712000_19.10.e275386.10","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1177\/11206721231171426","article-title":"Penetrating keratoplasty in brittle Cornea syndrome: case series and review of the literature","volume":"34","author":"Incandela","year":"2024","journal-title":"Eur J Ophthalmol"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2026-275386","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T13:30:25Z","timestamp":1791552625000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2026-275386"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,10]]},"references-count":10,"journal-issue":{"issue":"10","published-online":{"date-parts":[[2026,10,9]]},"published-print":{"date-parts":[[2026,10]]}},"alternative-id":["10.1136\/bcr-2026-275386"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2026-275386","relation":{},"ISSN":["1757-790X"],"issn-type":[{"value":"1757-790X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,10]]}}}