{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T00:23:55Z","timestamp":1789691035447,"version":"4.0.1"},"reference-count":17,"publisher":"Wiley","issue":"17","license":[{"start":{"date-parts":[[2008,7,31]],"date-time":"2008-07-31T00:00:00Z","timestamp":1217462400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fraser syndrome (FS) is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract. FS is considered to be the human equivalent of the murine blebbing mutants: in the mouse mutations at five loci cause a phenotype that is comparable to FS in humans, and thus far mutations in two syntenic human genes, <jats:italic>FRAS1<\/jats:italic> and <jats:italic>FREM2,<\/jats:italic> have been identified to cause FS. Here we present the molecular analysis of 48 FS patients from 18 consanguineous and 15 nonconsanguineous families. Linkage analysis in consanguineous families indicated possible linkage to <jats:italic>FRAS1<\/jats:italic> and <jats:italic>FREM2<\/jats:italic> in 60% of the cases. Mutation analysis identified 11 new mutations in <jats:italic>FRAS1<\/jats:italic> and one <jats:italic>FREM2<\/jats:italic> mutation. Manifestations of these patients and previously reported cases with an <jats:italic>FRAS1<\/jats:italic> mutation were compared to cases without detectable <jats:italic>FRAS1<\/jats:italic> mutations to study genotype\u2013phenotype correlations. Although our data suggest that patients with an <jats:italic>FRAS1<\/jats:italic> mutation have more frequently skull ossification defects and low insertion of the umbilical cord, these differences are not statistically significant. Mutations were identified in only 43% of the cases suggesting that other genes syntenic to murine genes causing blebbing may be responsible for FS as well. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32440","type":"journal-article","created":{"date-parts":[[2008,7,31]],"date-time":"2008-07-31T17:57:19Z","timestamp":1217527039000},"page":"2252-2257","source":"Crossref","is-referenced-by-count":72,"title":["Molecular study of 33 families with Fraser syndrome new data and mutation review"],"prefix":"10.1002","volume":"146A","author":[{"given":"M.M.","family":"van Haelst","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Maiburg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Baujat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Jadeja","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Monti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Bland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Pearce","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Fraser Syndrome Collaboration Group","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.C.","family":"Hennekam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.J.","family":"Scambler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,8,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31426"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/15227950500405353"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1962.tb01774.x"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2000.9696"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1549"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320490206"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1142"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1086\/344412"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1774"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32091"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31399"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi262"},{"key":"e_1_2_6_14_1","unstructured":"SmythI ScamblerP.2007.The genetics of Fraser syndrome and the blebs mouse mutants. In: Fifty years of human genetics: A festschrift and liber amicorum to celebrate the work and life of George Robert Fraser. Mayo O Leach C. p170\u2013177."},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320250111"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31951"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1168"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03539.x"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.32440","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32440","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T07:55:18Z","timestamp":1697615718000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32440"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,8,15]]},"references-count":17,"journal-issue":{"issue":"17","published-print":{"date-parts":[[2008,9]]}},"alternative-id":["10.1002\/ajmg.a.32440"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32440","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,8,15]]}}}