fig1

Pseudo-dominant Wilson disease with an unresolved third-generation <i>ATP7B</i> finding

Figure 1. Pedigree of the family. Filled symbols indicate genetically confirmed Wilson disease; half-filled symbols indicate monoallelic ATP7B variant or presumed carrier status; open symbols indicate no pathogenic ATP7B variant detected by WES. The arrow indicates the proband. WES: Whole-exome sequencing; ATPase: adenosine triphosphatase; ATP7B: ATPase copper transporting beta.