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Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation.
Tüngler, Victoria; Doebler-Neumann, Marion; Salandin, Michaela; Kaufmann, Peter; Wolf, Christine; Lucas, Nadja; Harmuth, Florian; Reichbauer, Jennifer; Krägeloh-Mann, Ingeborg; Schüle, Rebecca; Lee-Kirsch, Min Ae.
Afiliação
  • Tüngler V; Department 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 Hosp
  • Doebler-Neumann M; Department 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 Hosp
  • Salandin M; Department 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 Hosp
  • Kaufmann P; Department 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 Hosp
  • Wolf C; Department 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 Hosp
  • Lucas N; Department 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 Hosp
  • Harmuth F; Department 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 Hosp
  • Reichbauer J; Department 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 Hosp
  • Krägeloh-Mann I; Department 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 Hosp
  • Schüle R; Department 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 Hosp
  • Lee-Kirsch MA; Department 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 Hosp
Neurol Genet ; 6(1): e384, 2020 Feb.
Article em En | MEDLINE | ID: mdl-32042913
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Neurol Genet Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Neurol Genet Ano de publicação: 2020 Tipo de documento: Article