{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T10:59:51Z","timestamp":1791197991310,"version":"4.1.0"},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,4,19]],"date-time":"2013-04-19T00:00:00Z","timestamp":1366329600000},"content-version":"vor","delay-in-days":49,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"French Ministry of Health","award":["PHRC 09 109 01"],"award-info":[{"award-number":["PHRC 09 109 01"]}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["5 R01 DE13849 and -09S1"],"award-info":[{"award-number":["5 R01 DE13849 and -09S1"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,3]]},"abstract":"<jats:p><jats:styled-content style=\"fixed-case\">PDAC<\/jats:styled-content> syndrome [Pulmonary hypoplasia\/agenesis, Diaphragmatic hernia\/eventration, Anophthalmia\/microphthalmia (A\/M) and Cardiac Defect] is a condition associated with recessive mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">STRA6<\/jats:styled-content><\/jats:italic> gene in some of these patients. Recently, cases with isolated anophthalmia have been associated with <jats:italic><jats:styled-content style=\"fixed-case\">STRA6<\/jats:styled-content><\/jats:italic> mutations. To determine the minimal findings associated with <jats:italic><jats:styled-content style=\"fixed-case\">STRA6<\/jats:styled-content><\/jats:italic> mutations, we performed mutation analysis of the <jats:italic><jats:styled-content style=\"fixed-case\">STRA6<\/jats:styled-content><\/jats:italic> gene in 28 cases with anophthalmia. In 7 of the cases the anophthalmia was isolated, in 14 cases it was associated with one of the major features included in <jats:styled-content style=\"fixed-case\">PDAC<\/jats:styled-content> and 7 had other abnormalities. Mutations were identified in two individuals: one with bilateral anophthalmia and some features included in <jats:styled-content style=\"fixed-case\">PDAC<\/jats:styled-content>, who was a compound heterozygote for a missense mutation and a large intragenic deletion, and the second case with all the major features of <jats:styled-content style=\"fixed-case\">PDAC<\/jats:styled-content> and who had a homozygous splicing mutation. This study suggests that <jats:italic><jats:styled-content style=\"fixed-case\">STRA6<\/jats:styled-content><\/jats:italic> mutations are more likely to be identified in individuals with A\/M and other abnormalities included in the <jats:styled-content style=\"fixed-case\">PDAC<\/jats:styled-content> spectrum, rather than in isolated A\/M cases.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2012.01904.x","type":"journal-article","created":{"date-parts":[[2012,6,11]],"date-time":"2012-06-11T18:13:25Z","timestamp":1339438405000},"page":"244-250","source":"Crossref","is-referenced-by-count":38,"title":["Mutation analysis of the <i><scp>STRA6<\/scp><\/i> gene in isolated and non\u2010isolated anophthalmia\/microphthalmia"],"prefix":"10.1111","volume":"83","author":[{"given":"N","family":"Chassaing","sequence":"first","affiliation":[{"name":"Department of Medical Genetics CHU Toulouse, Purpan Hospital  31059 Toulouse France"},{"name":"EA\u20104555 Toulouse III Paul\u2010Sabatier University  31000 Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Ragge","sequence":"additional","affiliation":[{"name":"Wessex Regional Genetics Service Princess Anne Hospital  Southampton Hampshire SO16 5YA UK"},{"name":"School of Life Sciences Oxford Brookes University  Oxford OX3 0BP UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Kariminejad","sequence":"additional","affiliation":[{"name":"Kariminejad Najmabadi Pathology and Genetic Center  Tehran 14667 Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Buffet","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics CHU Toulouse, Purpan Hospital  31059 Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Ghaderi\u2010Sohi","sequence":"additional","affiliation":[{"name":"Kariminejad Najmabadi Pathology and Genetic Center  Tehran 14667 Iran"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Martinovic","sequence":"additional","affiliation":[{"name":"Department of Fetal Pathology Antoine Beclere Hospital  92141 Clamart France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Calvas","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics CHU Toulouse, Purpan Hospital  31059 Toulouse France"},{"name":"EA\u20104555 Toulouse III Paul\u2010Sabatier University  31000 Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,4,19]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31788"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1136244"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21023"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/518177"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1086\/512203"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33038"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32682"},{"key":"e_1_2_6_9_1","first-page":"2458","article-title":"Identification of STRA6 and SKI sequence variants in patients with anophthalmia\/microphthalmia","volume":"14","author":"White T","year":"2008","journal-title":"Mol 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