Ontology highlight
ABSTRACT:
SUBMITTER: Liu G
PROVIDER: S-EPMC5898064 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Liu Gang G Ma Dingyuan D Cheng Jian J Zhang Jingjing J Luo Chunyu C Sun Yun Y Hu Ping P Wang Yuguo Y Jiang Tao T Xu Zhengfeng Z
BMC medical genetics 20180412 1
<h4>Background</h4>Wilson's disease (WD) is an autosomal recessive disorder characterized by copper accumulation. ATP7B gene mutations lead to ATP7B protein dysfunction, which in turn causes Wilson's disease.<h4>Case presentation</h4>We describe a male case of Wilson's disease diagnosed at 10 years after routine biochemical test that showed low serum ceruloplasmin levels and Kayser-Fleischer rings in both corneas. Analysis of the ATP7B gene revealed compound heterozygous mutations in the proband ...[more]