{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T08:52:01Z","timestamp":1777884721028,"version":"3.51.4"},"reference-count":18,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2008,5,1]],"date-time":"2008-05-01T00:00:00Z","timestamp":1209600000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2008,5]]},"abstract":"<jats:p>Fraser syndrome (MIM #219000) is a rare genetic disorder with major features including cryptophthalmos, syndactyly, and genital anomalies. We report 2 independently autopsied children of the same nonconsanguineous parents. The siblings exhibit similar clinical features, all of which are consistent with a diagnosis of Fraser syndrome. The gross and microscopic findings provide insight into the highly variable clinical presentation of Fraser syndrome. Molecular diagnostic studies of the index case failed to identify one of the known gene mutations in the FRAS1 and FREM2 genes associated with Fraser syndrome. This raises the possibility that other genes or undetected mutations in the FRAS1\/FREM2 genes may cause Fraser syndrome.<\/jats:p>","DOI":"10.2350\/07-04-0254.1","type":"journal-article","created":{"date-parts":[[2008,6,13]],"date-time":"2008-06-13T08:04:54Z","timestamp":1213344294000},"page":"220-225","source":"Crossref","is-referenced-by-count":2,"title":["Fraser Syndrome: Affected Siblings Born to Nonconsanguineous Parents and Diagnosed at Autopsy"],"prefix":"10.1177","volume":"11","author":[{"given":"Ann","family":"De Jong","sequence":"first","affiliation":[{"name":"Department of Family Medicine, University of North Dakota\u2013Minot, 1201 11th Avenue SW, Minot, ND 58701, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miranda","family":"Warren","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, University of Wisconsin, 5250 MSC, 1300 University Avenue, Madison, WI 53706, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William","family":"Rehrauer","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, University of Wisconsin, 5250 MSC, 1300 University Avenue, Madison, WI 53706, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josephine","family":"Harter","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, University of Wisconsin, 5250 MSC, 1300 University Avenue, Madison, WI 53706, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Baraboo","sequence":"additional","affiliation":[{"name":"Dean Genetics\/Perinatology Clinic, St. Mary's Hospital, 707 South Mills Street, Madison, WI 53715, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunita","family":"Chandra","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, University of Wisconsin, 5250 MSC, 1300 University Avenue, Madison, WI 53706, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard M.","family":"Pauli","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Medical-Genetics, University of Wisconsin, 1500 Highland Avenue, Madison, WI 53705, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Don B.","family":"Singer","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, University of Wisconsin, 522a Service Mem Inst-Bardeen-Medical Sci, 470 N. 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