医学
疾病
突变
肝衰竭
基因
遗传学
生物信息学
内科学
生物
作者
Rehmat Ullah Awan,Shazia Rashid,Ambreen Nabeel,Manesh Kumar Gangwani,Hrishikesh Samant
标识
DOI:10.14309/crj.0000000000000977
摘要
Wilson disease is a hereditary disorder which involves anomalous copper metabolism. Typically, the presentation is systemic, involving vital organs such as the liver, kidney, and brain, among others. We report a unique case presenting with solitary organ involvement as acute liver failure with novel ATP7B gene mutation, which has never been reported before.
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