Wilson Disease is a single gene disorder - comprehensive analysis of patients with prior negative genetic testing

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