Ontology highlight
ABSTRACT:
SUBMITTER: Kahraman CY
PROVIDER: S-EPMC7912016 | biostudies-literature | 2021 Jan
REPOSITORIES: biostudies-literature
Kahraman Cigdem Yuce CY Islek Ali A Tatar Abdulgani A Özdemir Özlem Ö Mardinglu Adil A Turkez Hasan H
Medicina (Kaunas, Lithuania) 20210129 2
Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical presentations of WD are highly varied, primarily consisting of hepatic and neurological conditions. WD is caused by homozygous or compound heterozygous mutations in the <i>ATP7B</i> gene. The diagnosis of ...[more]