Keren Liani-Leibson
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View article: SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome Open
A novel autosomal recessive cerebro-renal syndrome was identified in consanguineous Bedouin kindred: neurological deterioration was evident as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia and…