Multicenter study analyzes genetic findings in patients with Wilson disease, revealing insights into unexplained cases.
of all patients solved by ATP7B -analysis only WD is a single gene disorder Wilson disease genetic study 5 step comprehensive genetic analysis Up to 20% of clinically diagnosed cases remain genetically unexplained i published cohorts Conclusion International multicenter study: Barcelona, Heidelberg, Aarhus, Yale 761 patients with WD and previous ATP7B analysis 44 (6%) 0 or 1 mutation Methods Cu
No takes yet. Share an insight, caveat, or question.
Lildballe et al. (2026) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: