Skull mass as a heralding sign of precursor B-cell acute lymphoblastic leukemia in a toddler
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- 作者：Jiaan-Der Wang ; Fang-Liang Huang ; Ching-Shiang Chi ; Guan Chou ; Te-Kau Chang
- 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：October 2006
- 年：2006
- 卷：149
- 期：4
- 页码：577
- 全文大小：82 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.