MEDNIK Syndrome: A Defect of Copper Metabolism

Abstract

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.

Keywords

• mednik syndrome
• ap1s1 mutations
• intrahepatic cholestasis