Wilson’s Disease Caused by Previously Undescribed Homozygous Nucleotide Variant of the <i>ATP7B</i> Gene: Clinical Cases

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&gt;T (p.T704I,...

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Bibliographic Details
Main Authors: Denis K. Chernevskiy, Alla E. Lavrova, Ekaterina Yu. Konovalova, Elena Yu. Borisova, Natalia A. Doroshchuk, Olga S. Groznova
Format: Article
Language:English
Published: "Paediatrician" Publishers LLC 2024-05-01
Series:Вопросы современной педиатрии
Subjects:
children
wilson’s disease
familial case
atp7b gene
cirrhosis
whole-genome sequencing
Online Access:https://vsp.spr-journal.ru/jour/article/view/3454
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https://vsp.spr-journal.ru/jour/article/view/3454

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