{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,27]],"date-time":"2026-04-27T16:27:44Z","timestamp":1777307264166,"version":"3.51.4"},"reference-count":22,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2008,9,9]],"date-time":"2008-09-09T00:00:00Z","timestamp":1220918400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2008,10]]},"abstract":"<jats:p>Microphthalmia and anophthalmia are at the severe end of the spectrum of abnormalities in ocular development. Mutations in several genes have been involved in syndromic and non\u2010syndromic anophthalmia. Previously, <jats:italic>RAX<\/jats:italic> recessive mutations were implicated in a single patient with right anophthalmia, left microphthalmia and sclerocornea. In this study, we report the findings of novel compound heterozygous <jats:italic>RAX<\/jats:italic> mutations in a child with bilateral anophthalmia. Both mutations are located in exon 3. c.664delT is a frameshifting deletion predicted to introduce a premature stop codon (p.Ser222ArgfsX62), and c.909C&gt;G is a nonsense mutation with similar consequences (p.Tyr303X). This is the second report of a patient with anophthalmia caused by <jats:italic>RAX<\/jats:italic> mutations. These findings confirm that <jats:italic>RAX<\/jats:italic> plays a major role in the early stages of eye development and is involved in human anophthalmia.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2008.01078.x","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T10:26:27Z","timestamp":1232706387000},"page":"392-395","source":"Crossref","is-referenced-by-count":34,"title":["Confirmation of <i>RAX<\/i> gene involvement in human anophthalmia"],"prefix":"10.1111","volume":"74","author":[{"given":"L","family":"Lequeux","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Rio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Vigouroux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Titeux","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"H","family":"Etchevers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Malecaze","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Chassaing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P","family":"Calvas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,9,16]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.1.16"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0008-4182(05)80115-2"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1120"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30642"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.09.023"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-47"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.94.7.3088"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/1526-968X(200011\/12)28:3\/4<135::AID-GENE70>3.0.CO;2-P"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1038\/42475"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1387\/ijdb.041878tb"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh025"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/gene.10003"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.embor.embor919"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.126.11.2451"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-005-0023-y"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.19.10.7001"},{"key":"e_1_2_6_18_2","doi-asserted-by":"publisher","DOI":"10.1089\/104454901750070292"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.5.2343"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.00665"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ydbio.2004.01.044"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2000.9757"},{"key":"e_1_2_6_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/477"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2008.01078.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2008.01078.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T11:12:18Z","timestamp":1697454738000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2008.01078.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,9,16]]},"references-count":22,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2008,10]]}},"alternative-id":["10.1111\/j.1399-0004.2008.01078.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2008.01078.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,9,16]]}}}