Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation

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Victoria Tüngler1, Marion Doebler-Neumann1, Michaela Salandin1

  • 1Department of Pediatrics (V.T., C.W., N.L., M.A.L.-K.), Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden; Department of Neuropediatrics (M.D.-N., I.K.-M.), University of Tübingen, Germany; Child Neurology and Psychiatry Unit (M.S.), Paediatric Department, Bolzano Regional Hospital; Child Haematology and Oncology Unit (P.K.), Paediatric Department, Bolzano Regional Hospital, Italy; Institute of Medical Genetics and Applied Genomics (F.H.), University of Tübingen; and Center for Neurology and Hertie-Institute for Clinical Brain Research (J.R., R.S.), University of Tübingen and German Center of Neurodegenerative Diseases, Germany.

Neurology. Genetics
|February 12, 2020
PubMed
Abstract

No abstract available in PubMed .

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