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It is caused by pathogenic variants in the <jats:italic>GPC3<\/jats:italic> gene on chromosome Xq26.2. Here, we performed a comprehensive literature review and phenotyping of known patients with molecularly confirmed SGBS and reviewed a novel cohort of 22 patients. Using these data, we characterized the tumor risk for Wilms tumor and hepatoblastoma to suggest appropriate screening for this patient population. In addition, we discuss the phenotypic overlap between SGBS and Beckwith\u2010Wiedemann Spectrum.<\/jats:p>","DOI":"10.1002\/ajmg.a.63840","type":"journal-article","created":{"date-parts":[[2024,8,19]],"date-time":"2024-08-19T07:39:56Z","timestamp":1724053196000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Phenotypic spectrum and tumor risk in Simpson\u2010Golabi\u2010Behmel syndrome: Case series and comprehensive literature review"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4083-7230","authenticated-orcid":false,"given":"Alex F.","family":"Nisbet","sequence":"first","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania 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Brussels Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1500-9713","authenticated-orcid":false,"given":"Jennifer M.","family":"Kalish","sequence":"additional","affiliation":[{"name":"Division of Human Genetics Children's Hospital of Philadelphia  Philadelphia Pennsylvania USA"},{"name":"Department of Pediatrics and Genetics, Perelman School of Medicine University of Pennsylvania  Philadelphia Pennsylvania USA"},{"name":"Center for Childhood Cancer Research Children's Hospital of Philadelphia  Philadelphia Pennsylvania 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