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We describe a new human disease: Birk-Landau Perez cerebro-renal syndrome (OMIM #617595), affecting the brain and the kidneys. We show that the hereditary disease is due to a mutation in the zinc transporter SLC30A9 (called also Znt9), affecting its function.

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This page is a summary of: SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome, Brain, February 2017, Oxford University Press (OUP),
DOI: 10.1093/brain/awx013.
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