Comparison of clinical prediction rules for management of pharyngitis in settings with limited resources

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• 作者：Christa L. Fischer Walker ; Anne W. Rimoin ; H.S. Hamza ; Mark C. Steinhoff
• 关键词：Central poststroke pain ; zonisamide ; thalamus ; low voltage– ; activated calcium channel
• 刊名：The Journal of Pediatrics
• 出版年：2006
• 出版时间：July 2006
• 年：2006
• 卷：149
• 期：1
• 页码：64-71
• 全文大小：223 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.