SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome

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 af...

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Dades bibliogràfiques
Publicat a:Brain
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2017
Matèries:
Original Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC5837213/
https://ncbi.nlm.nih.gov/pubmed/28334855
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awx013
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