Article
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.
Brain : a journal of neurology - 1 Apr 2017
Perez Yonatan, Shorer Zamir, Liani-Leibson Keren, Chabosseau Pauline, Kadir Rotem, Volodarsky Michael, Halperin Daniel, Barber-Zucker Shiran, Shalev Hanna, Schreiber Ruth, Gradstein Libe, Gurevich Evgenia, Zarivach Raz, Rutter Guy A, Landau Daniel, Birk Ohad S
Abstract excerpt
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 oculomotor apraxia. Brain MRI was normal. Four of the six affected individuals also had early-onset nephropathy with features of tubulo-interstitial nephritis, hypertension and...
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