Article
ATP7B Mutation Detection and Pathogenicity Analysis: One Atypical Case of Wilson's Disease with Adrenocortical Insufficiency.
Journal of molecular neuroscience : MN - 1 Jan 2018
Liu Min, Jin Meifang, Chen Xuqin, Wan Bo, Guo Yue, Sheng Mao, Chen Linqi, Zhao Lei, Huang Danping, Li Yan
Abstract excerpt
Wilson's disease (WD) is an autosomal recessive disorder caused by defective function of the copper-transporting ATP7B protein. Symptoms are typically related to the brain and liver, while endocrinologic abnormalities are rare. Here, we reported a 12-year-old female patient that was initially presented with unusual skin darkening and low serum level of adrenocorticotropic hormone and diagnosed as having...
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