ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease

C. Thiels

1   Department of Neuropediatrics, University Hospital of Pediatrics and Adolescent Medicine, Ruhr University Bochum, Bochum, Germany

2   Center for Rare Diseases Ruhr (CeSER), Bochum/Witten, Germany

,

T. Lücke

1   Department of Neuropediatrics, University Hospital of Pediatrics and Adolescent Medicine, Ruhr University Bochum, Bochum, Germany

2   Center for Rare Diseases Ruhr (CeSER), Bochum/Witten, Germany

,

T. Rothoeft

1   Department of Neuropediatrics, University Hospital of Pediatrics and Adolescent Medicine, Ruhr University Bochum, Bochum, Germany

2   Center for Rare Diseases Ruhr (CeSER), Bochum/Witten, Germany

,

C. Lukas

3   Institute for Neuroradiology, St. Josef Hospital, Ruhr University Bochum, Bochum, Germany

,

H. P. Nguyen

2   Center for Rare Diseases Ruhr (CeSER), Bochum/Witten, Germany

4   Department of Human Genetics, Ruhr University Bochum, Bochum, Germany

,

J. C. von Kleist-Retzow

5   Department of Pediatrics, University Hospital Cologne, Faculty of Medicine, University of Cologne, Cologne, Germany

,

H. Prokisch

6   Helmholtz Zentrum München, Germany

,

M. Grimmel

7   Insitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

,

T. B. Haack

7   Insitute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

,

S. Hoffjan

2   Center for Rare Diseases Ruhr (CeSER), Bochum/Witten, Germany

4   Department of Human Genetics, Ruhr University Bochum, Bochum, Germany

› Author Affiliations

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