Wilson’s Disease Caused by Previously Undescribed Homozygous Nucleotide Variant of the <i>ATP7B</i> Gene: Clinical Cases
Wilson’s disease is severe autosomal recessive disease manifested primarily by hepatic, neurological, and psychiatric disorders due to excessive copper deposition in organs and tissues. Clinical case description. The variant with uncertain clinical value of the ATP7B gene, c.2111C>T (p.T704I,...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
"Paediatrician" Publishers LLC
2024-05-01
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| Series: | Вопросы современной педиатрии |
| Subjects: | |
| Online Access: | https://vsp.spr-journal.ru/jour/article/view/3454 |
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