{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,22]],"date-time":"2026-10-22T04:03:32Z","timestamp":1792641812346,"version":"4.5.0"},"reference-count":45,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2013,4,18]],"date-time":"2013-04-18T00:00:00Z","timestamp":1366243200000},"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 C"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Simpson\u2013Golabi\u2013Behmel syndrome (SGBS) is a rare X\u2010linked multiple congenital abnormality\/intellectual disability syndrome characterized by pre\u2010 and post\u2010natal overgrowth, distinctive craniofacial features, macrocephaly, variable congenital malformations, organomegaly, increased risk of tumor and mild\/moderate intellectual deficiency. In 1996, Glypican 3 (<jats:italic>GPC3<\/jats:italic>) was identified as the major gene causing SGBS but the mutation detection rate was only 28\u201370%, suggesting either genetic heterogeneity or that some patients could have alternative diagnoses. This was particularly suggested by some reports of atypical cases with more severe prognoses. In the family reported by Golabi and Rosen, a duplication of <jats:italic>GPC4<\/jats:italic> was recently identified, suggesting that <jats:italic>GPC4<\/jats:italic> could be the second gene for SGBS but no point mutations within <jats:italic>GPC4<\/jats:italic> have yet been reported. In the genetics laboratory in Tours Hospital, <jats:italic>GPC3<\/jats:italic> molecular testing over more than a decade has detected pathogenic mutations in only 8.7% of individuals with SGBS. In addition, <jats:italic>GPC4<\/jats:italic> mutations have not been identified thus raising the question of frequent misdiagnosis. In order to better delineate the phenotypic spectrum of SGBS caused by <jats:italic>GPC3<\/jats:italic> mutations, and to try to define specific clinical criteria for <jats:italic>GPC3<\/jats:italic> molecular testing, we reviewed the clinical features of all male cases with a <jats:italic>GPC3<\/jats:italic> mutation identified in the two molecular laboratories providing this test in France (Tours and Paris). We present here the results of the analysis of 42 patients belonging to 31 families and including five fetuses and three deceased neonates. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31360","type":"journal-article","created":{"date-parts":[[2013,4,18]],"date-time":"2013-04-18T17:36:53Z","timestamp":1366306613000},"page":"92-105","source":"Crossref","is-referenced-by-count":87,"title":["Phenotypic Spectrum of Simpson\u2013<scp>G<\/scp>olabi\u2013<scp>B<\/scp>ehmel Syndrome in a Series of 42 Cases With a Mutation in <scp><i>GPC<\/i><\/scp><i>3<\/i> and Review of the 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