Article
Menkes disease.
European journal of human genetics : EJHG - 1 May 2010
Tümer Zeynep, Møller Lisbeth B
Abstract excerpt
Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males. MD occurs due to mutations in the ATP7A gene and the vast majority of ATP7A mutations are...
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