Published 2013 | Version v1.0.0
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MEDNIK Syndrome: A Defect of Copper Metabolism

Abstract

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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PNB-2013-27-4-10

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Created
2013
When the item was originally created.