The morbidity and mortality conference in university-affiliated pediatric departments in Canada

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• 作者：Jeremy N. Friedman ; Marie S. Pinard ; Ronald M. Laxer
• 关键词：major depression ; children ; adolescents ; SSRI
• 刊名：The Journal of Pediatrics
• 出版年：2005
• 出版时间：January 2005
• 年：2005
• 卷：146
• 期：1
• 页码：1-2
• 全文大小：88 K

文摘

This report describes the phenotype of a novel de novo heterozygous frameshift mutation in the hepatocyte nuclear factor-1;2; gene (HNF-1;2; or TCF2) manifest as a neonatal paucity of intrahepatic bile ducts. HNF-1;2; mutations should be considered in neonates with cholestatic jaundice associated with renal malformation or diabetes mellitus.