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

Author:

Perez Yonatan1,Shorer Zamir2,Liani-Leibson Keren1,Chabosseau Pauline3,Kadir Rotem1,Volodarsky Michael1,Halperin Daniel1,Barber-Zucker Shiran4,Shalev Hanna5,Schreiber Ruth5,Gradstein Libe6,Gurevich Evgenia5,Zarivach Raz4,Rutter Guy A.3,Landau Daniel5,Birk Ohad S.17

Affiliation:

1. The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva 84105, Israel

2. Pediatric Neurology unit, Division of Pediatrics, Soroka University Medical Center, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva 84101, Israel

3. Section of Cell Biology and Functional Genomics, Division of Diabetes Endocrinology and Metabolism, Department of Medicine, Imperial College London, London W12 0NN, UK

4. Department of Life Sciences and the National Institute for Biotechnology in the Negev, Ben-Gurion University of the Negev, Beer Sheva, 8410501, Israel

5. Pediatric Nephology unit, Division of Pediatrics, Soroka University Medical Center, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva 84101, Israel

6. Department of Ophthalmolgy, Soroka Medical Center and Clalit Health Services, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer-Sheva, BeerSheva 84105, Israel

7. Genetics Institute, Soroka University Medical Center, Ben Gurion University of the Negev, Beer Sheva 84101, Israel

Publisher

Oxford University Press (OUP)

Subject

Neurology (clinical)

Reference37 articles.

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