Pediatric Neurology Briefs (Apr 2013)

MEDNIK Syndrome: A Defect of Copper Metabolism

  • J Gordon Millichap

DOI
https://doi.org/10.15844/pedneurbriefs-27-4-10
Journal volume & issue
Vol. 27, no. 4
pp. 32 – 32

Abstract

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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.

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