RT Journal T1 一种致先天性常染色体隐性遗传鱼鳞病的PNPLA1新突变:1例病例报告 A1 李函, 钱丽娟, 徐南, 黄莉, 乔立兴 PB Chinese Medical Sciences Journal FD 2022-12-31 YR 2022 JF Chinese Medical Sciences Journal JO Chinese Medical Sciences Journal VO 37 IS 4 SP 349 DO 10.24920/004009 K1 ;先天性常染色体隐性遗传鱼鳞病;#i#PNPLA1#/i#基因;复合杂合突变 LK {http://cmsj.cams.cn/CN/article/article_3512.shtml}