Menkes Disease: Case Report

Aayushi Mohan,Santhosh K Singh,Anil K Gupta, Amit K Pandey

Pigment international（2018）

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摘要

Menkes disease is an X-linked lethal multisystem disorder caused by the disturbances of copper distribution in different tissues due to the mutation of ATPA7 gene. The estimated prevalence of the disease is 1 in 100,000 to 1 in 250,000 (Kirodian et al., 2002).

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关键词

Ceruloplasmin,Menkes disease,pili torti

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