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2024-10-22 03:15
Practice now this Gastroenterology quiz for the USMLE Step 1
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smarter.med
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jimchunnn
B Wilson disease ATP7B gene mutation (AR) A mutation at ATP7B fail the copper ion to bind with ceruloplasmin, and thus causes the accumulation of copper ion in tissues. Symptoms include cirrhosis ( can lead to jaundice), degeneration of lenticular nuclei in the basal ganglion ( can cause dystonia and tremor, giant panda sign on the MRI), and Kayser-Fleschier rings in the eyes ( deposition of copper in descent membrane of the cornea).