Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation

Author:

Zaki M.S.1ORCID,Issa M.Y.1,Elbendary H.M.2,El-Karaksy H.3,Hosny H.4,Ghobrial C.3,El Safty A.5,El-Hennawy A.6,Oraby A.7,Selim L.7,Abdel-Hamid M.S.8

Affiliation:

1. Human Genetics and Genome Research Division, Clinical Genetics Department; National Research Centre; Cairo Egypt

2. Medical Research Division, Child Health Department; National Research Centre; Cairo Egypt

3. Pediatric Hepatology Department, Kasr Alainy Medical School; Cairo University; Cairo Egypt

4. Pediatric Neurology Department; National Institute of Neuromotor System; Cairo Egypt

5. Department of Occupational and Environmental Medicine, Kasr Alainy Medical School; Cairo University; Egypt

6. Pathology Department, Kasr Alainy Medical School; Cairo University; Cairo Egypt

7. Pediatric Neurology Department, Kasr Alainy Medical School; Cairo University; Cairo Egypt

8. Human Genetics and Genome Research Division, Medical Molecular Genetics Department; National Research Centre; Cairo Egypt

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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