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The clinical spectrum is broad, ranging from mild manifestations in both males and females to multiple malformations and neonatal death in the more severely affected cases. An increased risk of neoplasia is reported, requiring periodical surveillance. Intellectual development is normal in most cases. SGBS is caused by a loss\u2010of\u2010function mutation of the\n                    <jats:italic>GPC3<\/jats:italic>\n                    gene, either deletions or point mutations, distributed all over the gene. Notably,\n                    <jats:italic>GPC3<\/jats:italic>\n                    deletion\/point mutations are not found in a significant proportion of clinically diagnosed SGBS cases. The protein product GPC3 is a glypican functioning as a receptor for Hh at the cell surface, involved in the Hh\u2010Ptc\u2010Smo signaling pathway, a regulator of cellular growth.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.c.32088","type":"journal-article","created":{"date-parts":[[2024,5,20]],"date-time":"2024-05-20T05:19:40Z","timestamp":1716182380000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["<scp>Simpson\u2013Golabi\u2013Behmel<\/scp>\n                    syndrome"],"prefix":"10.1002","volume":"196","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8413-621X","authenticated-orcid":false,"given":"Alessandro","family":"Vaisfeld","sequence":"first","affiliation":[{"name":"Medical Genetics Unit, IRCCS Azienda Ospedaliero\u2010Universitaria di Bologna  Bologna Italy"},{"name":"Department of Medical and Surgical Sciences University of Bologna  Bologna Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7642-0130","authenticated-orcid":false,"given":"Giovanni","family":"Neri","sequence":"additional","affiliation":[{"name":"Institute of Genomic Medicine, Catholic University School of Medicine  Rome Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2024,5,20]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36682"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00291401"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300129"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/302527"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-006-0210-5"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/embor.2009.98"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2008.03.006"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1006\/dbio.2001.0554"},{"key":"e_1_2_12_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320290407"},{"key":"e_1_2_12_11_1","volume-title":"Oxford monographs on medical genetics","author":"Cohen M. 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