{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,3]],"date-time":"2026-04-03T09:35:04Z","timestamp":1775208904774,"version":"3.50.1"},"reference-count":11,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2007,11,2]],"date-time":"2007-11-02T00:00:00Z","timestamp":1193961600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Experimental Dermatology"],"published-print":{"date-parts":[[2008,4]]},"abstract":"<jats:p><jats:bold>Abstract:\u2002<\/jats:bold> Shprintzen\u2010Goldberg syndrome (SGS) is a rare disorder characterized by a Marfan\u2010like habitus, mental retardation and craniosynostosis. Cardiac abnormalities, such as aortic root dilation have also been noted as well as several skeletal abnormalities. Its nosological status is unclear as it is hard to delineate SGS from similar disorders, such as Furlong, Marfan type II, Camurati\u2010Engelmann and Loeys\u2010Dietz syndromes. It has been suggested that these conditions represent a phenotypical spectrum associated with aberrant TGF\u2010\u03b2 signalling. In support of this notion, we found a novel TGFBR2 missense mutation in a patient with features of SGS.<\/jats:p>","DOI":"10.1111\/j.1600-0625.2007.00648.x","type":"journal-article","created":{"date-parts":[[2007,11,3]],"date-time":"2007-11-03T10:18:55Z","timestamp":1194085135000},"page":"362-365","source":"Crossref","is-referenced-by-count":17,"title":["Shprintzen\u2010Goldberg syndrome associated with a novel missense mutation in <i>TGFBR2<\/i>"],"prefix":"10.1111","volume":"17","author":[{"given":"Maurice A.M.","family":"Van Steensel","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Van Geel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lizelotte J.M.T.","family":"Parren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Constance T.R.M.","family":"Schrander\u2010Stumpel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dominique","family":"Marcus\u2010Soekarman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,11,2]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31202"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1511"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320260314"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20354"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30431"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980319)76:3<202::AID-AJMG2>3.0.CO;2-S"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31006"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970822)71:3<348::AID-AJMG17>3.0.CO;2-K"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200201000-00001"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10038-006-0078-1"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20353"}],"container-title":["Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1600-0625.2007.00648.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1600-0625.2007.00648.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T10:53:08Z","timestamp":1697021588000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1600-0625.2007.00648.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,11,2]]},"references-count":11,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2008,4]]}},"alternative-id":["10.1111\/j.1600-0625.2007.00648.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1600-0625.2007.00648.x","archive":["Portico"],"relation":{},"ISSN":["0906-6705","1600-0625"],"issn-type":[{"value":"0906-6705","type":"print"},{"value":"1600-0625","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,11,2]]}}}