A multicenter study of the outcome of biliary atresia in the United States, 1997 to 2000

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• 作者：Benjamin L. Shneider ; Morton B. Brown ; Barbara Haber ; Peter F. Whitington ; Kathleen Schwarz ; Robert Squires ; Jorge Bezerra ; Ross Shepherd ; Philip Rosenthal ; Jay H. Hoofnagle ; Ronald J. Sokol
• 关键词：major depression ; children ; adolescents ; SSRI
• 刊名：The Journal of Pediatrics
• 出版年：2006
• 出版时间：April 2006
• 年：2006
• 卷：148
• 期：4
• 页码：467
• 全文大小：251 K

文摘

This report describes the phenotype of a novel de novo heterozygous frameshift mutation in the hepatocyte nuclear factor-1β gene (HNF-1β or TCF2) manifest as a neonatal paucity of intrahepatic bile ducts. HNF-1β mutations should be considered in neonates with cholestatic jaundice associated with renal malformation or diabetes mellitus.