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一个新的多系统ERCC1-肝综合征:从临床队列的见解,分子病原和管理指南

Susan M White1,2, Annelotte P Wondergem3, Isa Breet3

  • 1Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, VIC, Australia. sue.white@vcgs.org.au.

European journal of human genetics : EJHG
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PubMed
概括

一种新的DNA修复障碍,ERCC1-肝综合征,导致严重的多系统问题,增加了儿童肝细胞癌的风险. 管理包括癌症监测和谨慎使用化疗.

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