{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T09:42:23Z","timestamp":1790502143684,"version":"4.1.0"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,3,5]],"date-time":"2013-03-05T00:00:00Z","timestamp":1362441600000},"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":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Mutations in the gene encoding glypican (<jats:italic>GPC<\/jats:italic>) <jats:italic>3<\/jats:italic> appear to be responsible for most cases of Simpson\u2013Golabi\u2013Behmel syndrome type 1. Duplication of the <jats:italic>GPC4<\/jats:italic> gene has also been associated to this syndrome; however, no duplications involving <jats:italic>GPC3<\/jats:italic> have been related. We describe a family that harbors a novel exon 2\u20134 duplication event leading to a truncating germline mutation of the <jats:italic>GPC3<\/jats:italic> gene that, to our knowledge, has not been previously reported. GPC3 transcripts that carry this duplication bear non\u2010functional proteins making its pathogenic role highly probable. The absence of a functional GPC3 may alter the normal differentiation of embryonal mesodermal tissues predisposing to the development of embryonal tumors, as the index case studied who developed a hepatoblastoma at age 9 months. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35738","type":"journal-article","created":{"date-parts":[[2013,3,6]],"date-time":"2013-03-06T04:36:02Z","timestamp":1362544562000},"page":"1091-1095","source":"Crossref","is-referenced-by-count":24,"title":["Simpson\u2013<scp>G<\/scp>olabi\u2013<scp>B<\/scp>ehmel Syndrome Type 1 and Hepatoblastoma in a Patient With a Novel Exon 2\u20134 Duplication of the <scp><i>GPC<\/i><\/scp><i>3<\/i> Gene"],"prefix":"10.1002","volume":"161","author":[{"given":"Mar\u00eda Elena","family":"Mateos","sequence":"first","affiliation":[{"name":"Pediatric Oncology Unit, Department of Pediatrics University Hospital Reina Sof\u00eda C\u00f3rdoba Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katrin","family":"Beyer","sequence":"additional","affiliation":[{"name":"Department of Pathology University Hospital Germans Tr\u00edas i Pujol, Badalona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"L\u00f3pez\u2010Laso","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Unit, Department of Pediatrics University Hospital Reina Sof\u00eda C\u00f3rdoba Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan L\u00f3pez","family":"Siles","sequence":"additional","affiliation":[{"name":"Molecular Biology Centre GENETAQ M\u00e1laga Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Luis","family":"P\u00e9rez\u2010Navero","sequence":"additional","affiliation":[{"name":"Pediatric Intensive Care Unit, Department of Pediatrics University Hospital Reina Sof\u00eda C\u00f3rdoba Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda Jos\u00e9","family":"Pe\u00f1a","sequence":"additional","affiliation":[{"name":"Pediatric Oncology Unit, Department of Pediatrics University Hospital Reina Sof\u00eda C\u00f3rdoba Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juana","family":"Guzm\u00e1n","sequence":"additional","affiliation":[{"name":"Neonatology, Department of Pediatrics University Hospital Reina Sof\u00eda C\u00f3rdoba Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juliana","family":"Matas","sequence":"additional","affiliation":[{"name":"Molecular Biology Centre GENETAQ M\u00e1laga 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