Clinical and genetic characterization of a large cohort of patients with Wilson's disease in China.
Shijie ZhangWenming YangXiang LiPei PeiTing DongYue YangJing ZhangPublished in: Translational neurodegeneration (2022)
Our work expanded the ATP7B variant spectrum and highlighted the differences among patients with WD in age-at-onset and ATP7B variants, which may provide some valuable insights into the diagnosis, counseling, and treatment of patients with WD.