{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T15:03:27Z","timestamp":1777647807504,"version":"3.51.4"},"reference-count":10,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,4,24]],"date-time":"2017-04-24T00:00:00Z","timestamp":1492992000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Congenital Anomalies"],"published-print":{"date-parts":[[2017,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a consanguineous family with three pregnancies affected with Fraser syndrome. We note severe brachydactyly is a manifestation of Fraser syndrome and found a novel homozygous splice site variation c.3293\u20102A&gt;T in <jats:italic>FRAS1<\/jats:italic>. We would like to highlight variable manifestations of Fraser syndrome and the presence of oligohydramnios in the antenatal period often makes prenatal diagnosis clinically challenging.<\/jats:p>","DOI":"10.1111\/cga.12188","type":"journal-article","created":{"date-parts":[[2016,9,14]],"date-time":"2016-09-14T09:56:53Z","timestamp":1473847013000},"page":"83-85","source":"Crossref","is-referenced-by-count":8,"title":["Variable presentation of Fraser syndrome in two fetuses and a novel mutation in <i>FRAS1<\/i>"],"prefix":"10.1111","volume":"57","author":[{"given":"Shalini S.","family":"Nayak","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal University  Manipal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Smrithi","family":"Salian","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal University  Manipal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anju","family":"Shukla","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal University  Manipal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary","family":"Mathew","sequence":"additional","affiliation":[{"name":"Department of Pathology Kasturba Medical College, Manipal University  Manipal India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0139-8239","authenticated-orcid":false,"given":"Katta M.","family":"Girisha","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Kasturba Medical College, Manipal University  Manipal India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,4,24]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1469-0705.2001.00374.x"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.2350\/07-04-0254.1"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12762"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.anpedi.2014.04.009"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.biocel.2010.12.016"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1774"},{"key":"e_1_2_6_8_1","first-page":"929","article-title":"Fraser syndrome: recurrence in a family","volume":"44","author":"Singh R","year":"2007","journal-title":"Indian Pediatr"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.9.623"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31951"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32440"}],"container-title":["Congenital Anomalies"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12188","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcga.12188","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cga.12188","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T06:34:10Z","timestamp":1696314850000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cga.12188"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,4,24]]},"references-count":10,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2017,5]]}},"alternative-id":["10.1111\/cga.12188"],"URL":"https:\/\/doi.org\/10.1111\/cga.12188","archive":["Portico"],"relation":{},"ISSN":["0914-3505","1741-4520"],"issn-type":[{"value":"0914-3505","type":"print"},{"value":"1741-4520","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,4,24]]}}}