{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T06:41:50Z","timestamp":1791960110378,"version":"4.3.4"},"reference-count":8,"publisher":"SLACK, Inc.","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Ophthalmic Surg Lasers Imaging Retina"],"published-print":{"date-parts":[[2016,2]]},"abstract":"<jats:p>\n            Usher syndrome is an autosomal recessive condition characterized by retinitis pigmentosa (RP) and congenital hearing loss, with or without vestibular dysfunction. Allelic variants of\n            <jats:italic>CDH23<\/jats:italic>\n            cause both Usher syndrome type 1D (USH1D) and a form of nonsyndromic hearing loss (DFNB12). The authors describe here a 34-year-old patient with congenital hearing loss and a new diagnosis of sector RP who was found to have two novel compound heterozygous mutations in\n            <jats:italic>CDH23<\/jats:italic>\n            , including one missense (c.8530C &gt; A; p.Pro2844Thr) and one splice-site (c.5820 + 5G &gt; A) mutation. This is the first report of sector RP associated with these types of mutations in\n            <jats:italic>CDH23<\/jats:italic>\n            .\n          <\/jats:p>\n          <jats:p>\n            <jats:bold>\n              [\n              <jats:italic>Ophthalmic Surg Imaging Lasers Retina<\/jats:italic>\n              . 2016;47:183\u2013186.]\n            <\/jats:bold>\n          <\/jats:p>","DOI":"10.3928\/23258160-20160126-14","type":"journal-article","created":{"date-parts":[[2016,2,15]],"date-time":"2016-02-15T21:04:14Z","timestamp":1455570254000},"page":"183-186","source":"Crossref","is-referenced-by-count":10,"title":["Sector Retinitis Pigmentosa Associated With Novel Compound Heterozygous Mutations of\n            <i>CDH23<\/i>"],"prefix":"10.3928","volume":"47","author":[{"given":"Sara V.","family":"Branson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jedediah I.","family":"McClintic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tara H.","family":"Stamper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chad R.","family":"Haldeman-Englert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vishak J.","family":"John","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"2308","reference":[{"key":"e_1_3_1_2_2","doi-asserted-by":"publisher","DOI":"10.1086\/341558"},{"key":"e_1_3_1_3_2","doi-asserted-by":"publisher","DOI":"10.1155\/2011\/417217"},{"key":"e_1_3_1_4_2","doi-asserted-by":"publisher","DOI":"10.3109\/09286586.2012.737890"},{"key":"e_1_3_1_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1755-3768.1993.tb04648.x"},{"key":"e_1_3_1_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1442-9071.2007.01440.x"},{"key":"e_1_3_1_7_2","doi-asserted-by":"publisher","DOI":"10.1097\/IAE.0b013e31820d3fd1"},{"key":"e_1_3_1_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/83667"},{"key":"e_1_3_1_9_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M114.609958"}],"container-title":["Ophthalmic Surgery, Lasers and Imaging Retina"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.healio.com\/ophthalmology\/journals\/osli\/2016-2-47-2\/%7Bbf223d24-8e08-4024-9ead-f6378f7e3672%7D\/sector-retinitis-pigmentosa-associated-with-novel-compound-heterozygous-mutations-of-cdh23","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,3]],"date-time":"2023-05-03T06:17:57Z","timestamp":1683094677000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.healio.com\/doi\/10.3928\/23258160-20160126-14"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,2]]},"references-count":8,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2016,2]]}},"alternative-id":["10.3928\/23258160-20160126-14"],"URL":"https:\/\/doi.org\/10.3928\/23258160-20160126-14","relation":{},"ISSN":["2325-8160","2325-8179"],"issn-type":[{"value":"2325-8160","type":"print"},{"value":"2325-8179","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2]]}}}