The problem of diagnosing orphan diseases is relevant due to the extreme heterogeneity of these diseases both in terms of the organs and systems they affect and in the degree of clinical polymorphism. The patient visits a number of specialists before receiving the correct diagnosis. [6]

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Eremina E.Y. Wilson-Konovalov disease // Bulletin of modern clinical medicine. - 2011. - V. 4. No. 1. P. 38-46.

Zhalsanova I.Z., Fonova E.A., Sivtsev A.A., Postrigan A.E., Sakovskaya T.A., Zarubin A.A., Minaycheva L.I., Agafonova A.A., Petrova V.V., Ravzhaeva E.G., Filimonova M.N., Nazarenko L.P., Seitova G.N., Skryabin N.A., Eva O.Y., Salyukova O.A. An integrated approach to the diagnosis of Wilson-Konovalov disease in the Siberian region. Medical genetics. 2021;20(10):53-56.

Reizis A.R. Wilson-Konovalov disease in children. Doctor.Ru. 2020; 19(10): 52-56.

Skryabin N.A., Vasilyeva O.Y., Sivtsev A.A., Zhalsanova I.Zh., Postrigan A.E., Minaycheva L.I., Agafonova A.A., Petrova V.V., Sivokha V.M., Filimonova M.N., Seitova G.N., Nazarenko L.P. Study of the ATP7B gene using massively parallel sequencing in patients with Wilson-Konovalov disease. Medical genetics. 2020;19(7):97-98.

Tuluzanovskaya I.G., Zhuchenko N.A., Balashova M.S., Filimonov M.I., Rozina T.P., Glotov O.S., Asanov A.Y. Wilson–Konovalov disease: intrafamilial clinical polymorphism. Pediatrics named after G.N. Speransky. 2017; 96 (6): 215-216.

8th International Meeting on Wilson’s disease, Leipzig, 2001