Published 2013 | Version v1.0.0
Journal Article Open
MEDNIK Syndrome: A Defect of Copper Metabolism
Investigators at Bambino Gesu Childrens 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.
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2013When the item was originally created.