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Molecular genetic analysis revealed the p.Gly556Arg mutation in exon 8 of the gene encoding glypican 3 (<jats:italic>GPC3<\/jats:italic>). This is the second case of a <jats:italic>GPC3<\/jats:italic> missense mutation to be reported. The only risk factor found in this patient was carotid redundancy, a deformation that is significantly associated with spontaneous carotid dissection. The natural history of SGBS in adults is poorly known, and this case raises the question of a possible vascular risk associated with the disease. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32154","type":"journal-article","created":{"date-parts":[[2008,1,18]],"date-time":"2008-01-18T00:20:28Z","timestamp":1200615628000},"page":"464-467","source":"Crossref","is-referenced-by-count":19,"title":["Carotid artery dissection in an adult with the Simpson\u2013Golabi\u2013Behmel syndrome"],"prefix":"10.1002","volume":"146A","author":[{"given":"Isabelle","family":"P\u00e9nisson\u2010Besnier","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thibaud","family":"Lebouvier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie\u2010Pierre","family":"Moizard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marc","family":"Ferr\u00e9","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magalie","family":"Barth","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guillaume","family":"Marc","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"Raynaud","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"Bonneau","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,1,17]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1161\/01.STR.25.6.1201"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291401"},{"key":"e_1_2_5_4_1","first-page":"1962","article-title":"Internal carotid artery redundancy is significantly associated with dissection","volume":"26","author":"Ben Hamouda\u2010M'Rad I","year":"1995","journal-title":"Stroke"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000225056.66762.f9"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1764"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1006\/mgme.2001.3150"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170128"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2006.042176"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990423)83:5<378::AID-AJMG7>3.0.CO;2-A"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1511"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981002)79:4<279::AID-AJMG9>3.0.CO;2-H"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0396-241"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30920"},{"key":"e_1_2_5_15_1","first-page":"18","article-title":"A previously unrecognized X\u2010linked syndrome of dysmorphia","author":"Simpson JL","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.9.1321"}],"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.32154","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32154","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T08:25:12Z","timestamp":1697617512000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32154"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1,17]]},"references-count":15,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2008,2,15]]}},"alternative-id":["10.1002\/ajmg.a.32154"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32154","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,1,17]]}}}