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Affected patients present a variable phenotype with pre\u2010 and post\u2010natal macrosomia, distinctive facial dysmophism, organomegaly, and multiple congenital anomalies. Intellectual disability is not constant. About 10% of patients have an increased risk of developing embryonic tumors in early childhood. Only one case of biliary disease has been described so far. <jats:italic>GPC3<\/jats:italic> is localized on Xq26. It encodes for glypican 3, a heparan sulfate proteoglycan, which among its different known roles, negatively regulates liver regeneration and hepatocyte proliferation. This report concerns a male with a SGBS1, carrier of a <jats:italic>GPC3<\/jats:italic> pathogenic mutation, and neonatal liver disease, who developed an early biliary cirrhosis. Together with the associated risk of cancer and developmental delay, liver transplantation was discussed and then successfully performed at the age of 19 months. A hypothesis on the role of GPC3 in the patient's liver disease is also proposed. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.36335","type":"journal-article","created":{"date-parts":[[2013,12,19]],"date-time":"2013-12-19T20:31:45Z","timestamp":1387485105000},"page":"774-777","source":"Crossref","is-referenced-by-count":5,"title":["A patient with Simpson\u2013Golabi\u2013Behmel syndrome, biliary cirrhosis and successful liver transplantation"],"prefix":"10.1002","volume":"164","author":[{"given":"Guillaume","family":"Jedraszak","sequence":"first","affiliation":[{"name":"Medical Genetics Unit Centre Hospitalier Universitaire d'Amiens Amiens France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Muriel","family":"Girard","sequence":"additional","affiliation":[{"name":"Paediatric Hepatogastroenterology\u2010Nutrition Unit Necker\u2010Enfants\u2010Malades Hospital Paris 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