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It is caused by mutation\/deletion of the <jats:italic>GPC3<\/jats:italic> gene. We describe a macrosomic 27\u2010week preterm newborn with SGBS1 who presents a novel <jats:italic>GPC3<\/jats:italic> mutation and emphasize the phenotypic aspects which allow a correct diagnosis neonatally in particular the rib malformations, hypoplasia of index finger and of the same fingernail, and 2nd\u20133rd finger syndactyly. \u00a9 2012 Wiley Periodicals, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.35474","type":"journal-article","created":{"date-parts":[[2012,7,18]],"date-time":"2012-07-18T23:36:37Z","timestamp":1342654597000},"page":"2245-2249","source":"Crossref","is-referenced-by-count":15,"title":["Simpson\u2013Golabi\u2013Behmel syndrome type 1 in a 27\u2010week macrosomic preterm newborn: The diagnostic value of rib malformations and index nail and finger hypoplasia"],"prefix":"10.1002","volume":"158A","author":[{"given":"Livia","family":"Garavelli","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giancarlo","family":"Gargano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Graziella","family":"Simonte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simonetta","family":"Rosato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anita","family":"Wischmeijer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nives","family":"Melli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Braibanti","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chiara","family":"Gelmini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Forzano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"Pietrobono","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Grazia","family":"Pomponi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Andreucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annick","family":"Toutain","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Superti\u2010Furga","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giovanni","family":"Neri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,7,17]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291401"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/302527"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0210-5"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2009.05.002"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320460523"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200501000-00008"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1101\/gad.11.23.3128"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320440202"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33561"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170128"},{"key":"e_1_2_6_12_1","doi-asserted-by":"crossref","unstructured":"GolabiM LeungA.2011.Simpson\u2013Golabi\u2013Behmel syndrome type 1. 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