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

• मुख्य लेखकों: Denis K. Chernevskiy (लेखक), Alla E. Lavrova (लेखक), Ekaterina Yu. Konovalova (लेखक), Elena Yu. Borisova (लेखक), Natalia A. Doroshchuk (लेखक), Olga S. Groznova (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: "Paediatrician" Publishers LLC, 2024-05-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...