MEDNIK Syndrome: A Defect of Copper Metabolism
DOI:
https://doi.org/10.15844/pedneurbriefs-27-4-10Keywords:
MEDNIK Syndrome, AP1S1 Mutations, Intrahepatic CholestasisAbstract
Investigators at Bambino Gesu Children’s Hospital, Rome, and other centers in Italy, Canada and France report an 8-year-old female Sephardic-Jewish patient with MEDNIK syndrome associated with a new AP1S1 homozygous mutation.Published
2013-04-01
Issue
Section
Metabolic Disorders
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