{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:27:42Z","timestamp":1786976862249,"version":"build-2736575974"},"reference-count":35,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,10,2]],"date-time":"2013-10-02T00:00:00Z","timestamp":1380672000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:label\/>\n                    <jats:p>We present a Hispanic male with the clinical and molecular diagnosis of Simpson\u2013Golabi\u2013Behmel syndrome (SGBS). The patient was born with multiple anomalies not entirely typical of SGBS patients, including penoscrotal hypospadias, a large prostatic utricle, and left coronal craniosynostosis. In addition, he demonstrated endocrine anomalies including a low random cortisol level suspicious for adrenal insufficiency and low testosterone level. To our knowledge, this is the first report of a prostatic utricle in SGBS and the second report of craniosynostosis. The unique disease\u2010causing mutation likely arose de novo in the mother. It is a deletion\u2010insertion that leads to a frameshift at the p.S349 residue of GPC3 and a premature stop codon after five more amino acids. P.S349 is the same residue that is normally cleaved by the Furin convertase, although the significance of this novel mutation with respect to the patient's multiple anomalies is unknown. We present this case as the perinatal course of a patient with unique features of SGBS and a confirmed molecular diagnosis. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.36086","type":"journal-article","created":{"date-parts":[[2013,10,11]],"date-time":"2013-10-11T21:20:42Z","timestamp":1381526442000},"page":"3121-3125","source":"Crossref","is-referenced-by-count":12,"title":["A patient with a unique frameshift mutation in\n                    <i>GPC3<\/i>\n                    , causing Simpson\u2013Golabi\u2013Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle"],"prefix":"10.1002","volume":"161","author":[{"given":"Diana D.","family":"Villarreal","sequence":"first","affiliation":[{"name":"Department of Cellular and Structural Biology School of Medicine The University of Texas Health Science Center at San Antonio San Antonio Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Humberto","family":"Villarreal","sequence":"additional","affiliation":[{"name":"Division of Pediatric Urology Department of Urology The University of Texas Health Science Center at San Antonio San Antonio Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Maria","family":"Paez","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and Diabetes Department of Pediatrics The University of Texas Health Science Center at San Antonio San Antonio Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis","family":"Peppas","sequence":"additional","affiliation":[{"name":"Division of Pediatric Urology Department of Urology The University of Texas Health Science Center at San Antonio San Antonio Texas"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Lynch","sequence":"additional","affiliation":[{"name":"Division of Endocrinology and 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