Article
Phenotypic and genetic characterization of children with Wilson Disease from Northeast China.
BMC pediatrics - 12 Sept 2024
Zhang Tianhe, Song Wenliang, Mao Zhiqin
Abstract excerpt
BACKGROUND: Wilson disease (WD) is an autosomal recessive inherited disease caused by ATP7B variants and characterized by copper metabolism defects. However, children with WD are often asymptomatic, making the clinical diagnosis difficult. Therefore, more accurate methods are required for clinical diagnosis. The objective of this study was to highlight the phenotypic and genetic characteristics of children with...
Topics
- Humans
- Hepatolenticular Degeneration
- Child
- Male
- Copper-Transporting ATPases
- Female
- China
- Adolescent
- Child, Preschool
- Retrospective Studies
- Phenotype
- Infant