REFERENCES
1. Schilsky ML, Roberts EA, Bronstein JM, et al. A multidisciplinary approach to the diagnosis and management of Wilson disease: executive summary of the 2022 Practice Guidance on Wilson disease from the American Association for the Study of Liver Diseases. Hepatology. 2023;77:1428-55.
2. Association for the Study of the Liver. EASL-ERN clinical practice guidelines on Wilson’s disease. J Hepatol. 2025;82:690-728.
3. Weiss KH, Schilsky M. Wilson Disease. In: Adam MP, Bick S, Mirzaa GM, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1116/ [Last accessed on 23 Oct 2026].
4. Shribman S, Marjot T, Sharif A, et al.; British Association for the Study of the Liver Rare Diseases Special Interest Group. Investigation and management of Wilson’s disease: a practical guide from the British Association for the Study of the Liver. Lancet Gastroenterol Hepatol. 2022;7:560-75.
5. Bennett JT, Schwarz KB, Swanson PD, Hahn SH. An exceptional family with three consecutive generations affected by Wilson disease. JIMD Rep. 2013;10:1-4.
6. Park H, Park DK, Kim MS, Yoon JH. Pseudo-dominant inheritance in Wilson’s disease. Neurol Sci. 2016;37:153-5.
7. Ferenci P, Caca K, Loudianos G, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int. 2003;23:139-42.
8. Richards S, Aziz N, Bale S, et al.; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405-24.
9. Riggs ER, Andersen EF, Cherry AM, et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020;22:245-57.
10. Schushan M, Bhattacharjee A, Ben-Tal N, Lutsenko S. A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism. Metallomics. 2012;4:669-78.
11. Zhu M, Dong Y, Ni W, Wu ZY. Defective roles of ATP7B missense mutations in cellular copper tolerance and copper excretion. Mol Cell Neurosci. 2015;67:31-6.
12. National Center for Biotechnology Information. ClinVar; NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val), VCV000003851.82 [Internet]. Available from: https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000003851.82/ [Last accessed on 21 Oct 2026].
13. National Center for Biotechnology Information. ClinVar; NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu), VCV000003852.65 [Internet]. Available from: https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000003852.65/ [Last accessed on 21 Oct 2026].
14. National Center for Biotechnology Information. ClinVar; NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu), VCV000188831.50 [Internet]. Available from: https://www.ncbi.nlm.nih.gov/clinvar/variation/VCV000188831.50/ [Last accessed on 21 Oct 2026].
15. Dzieżyc K, Litwin T, Chabik G, Gramza K, Członkowska A. Families with Wilson’s disease in subsequent generations: clinical and genetic analysis. Mov Disord. 2014;29:1828-32.
16. Li H, Liu L, Li Y, et al. Familial screening of children with Wilson disease: necessity of screening in previous generation and screening methods. Medicine. 2018;97:e11405.
17. Zhou XX, He RX, Pu XY, et al. Clinical characteristics of the Wilson disease carrier. Natl Med J China. 2019;99:806-11.
