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Article

Clinical spectrum and genotype-phenotype associations in Finnish patients with Wilson's disease.

Journal of the neurological sciences - 15 May 2023

Sipilä Jussi O T, Kytövuori Laura, Kaasinen Valtteri

Abstract excerpt

Genotype-phenotype correlation data covering all ages of Wilson's disease onset in Caucasian patients are limited. We therefore analyzed genotype-phenotype correlations in a retrospective cohort of Finnish patients. Six homozygous (HoZ) and 11 compound heterozygous (CoHZ) patients were included. There were no differences in the presence/absence of hepatic, neurological, psychiatric or any symptoms at diagnosis...

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PMID: 36966606
DOI: 10.1016/j.jns.2023.120620

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