Autosomal dominant Zellweger spectrum disorder caused by de novo variants in PEX14 gene
由 PEX14 基因新生变异引起的常染色体显性泽尔韦格综合征
期刊:Genetics in Medicine
影响因子:6.6
doi:10.1016/j.gim.2023.100944
Hans R Waterham, Janet Koster, Merel S Ebberink, Pavel Ješina, Jiri Zeman, Lenka Nosková, Stanislav Kmoch, Perrine Devic, David Cheillan, Ronald J A Wanders, Sacha Ferdinandusse