一种致先天性常染色体隐性遗传鱼鳞病的<i>PNPLA1</i>新突变：1例病例报告

李函, 钱丽娟, 徐南, 黄莉, 乔立兴

Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report

Han Li, Lijuan Qian, Nan Xu, Li Huang, Lixing Qiao

Chinese Medical Sciences Journal . 2022, (4): 349 -352 . DOI: 10.24920/004009

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