@article{Han Li:349, author = {Han Li, Lijuan Qian, Nan Xu, Li Huang, Lixing Qiao}, title = {Novel Pathogenic Mutation of PNPLA1 Identified in Autosomal Recessive Congenital Ichthyosis: A Case Report}, publisher = {Chinese Medical Sciences Journal}, year = {2022}, journal = {Chinese Medical Sciences Journal}, volume = {37}, number = {4}, eid = {349}, numpages = {3}, pages = {349}, keywords = {;autosomal recessive congenital ichthyosis;#i#PNPLA1#/i#;compound heterozygous variation}, url = {http://cmsj.cams.cn/EN/abstract/article_3512.shtml}, doi = {10.24920/004009} }