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.

Rare Disease and Orphan Drugs Journal
ISSN 2771-2893 (Online)
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