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Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.
Bublitz, S K; Alhaddad, B; Synofzik, M; Kuhl, V; Lindner, A; Freiberg, C; Schmidt, H; Strom, T M; Haack, T B; Deschauer, M.
Affiliation
  • Bublitz SK; Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
  • Alhaddad B; Institute of Human Genetics, Technische Universität München, München, Germany.
  • Synofzik M; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research (HIH), University of Tübingen, and German Center for Neurodegenerative Diseases (DZNE), Tübingen, Germany.
  • Kuhl V; Department of Neurology, Marienhospital Stuttgart, Stuttgart, Germany.
  • Lindner A; Department of Neurology, Marienhospital Stuttgart, Stuttgart, Germany.
  • Freiberg C; Department of Pediatrics, Universitätsmedizin Göttingen, Göttingen, Germany.
  • Schmidt H; Division of Pediatric Endocrinology, University Children's Hospital, Ludwig-Maximilian University, Munich, Germany.
  • Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Haack TB; Institute of Human Genetics, Technische Universität München, München, Germany.
  • Deschauer M; Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
Clin Genet ; 92(5): 561-562, 2017 Nov.
Article in En | MEDLINE | ID: mdl-28940199
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Congenital Hypothyroidism / Diabetes Mellitus / HSP40 Heat-Shock Proteins / Mutation / Nerve Degeneration Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Clin Genet Year: 2017 Document type: Article Affiliation country: Alemania Country of publication: Dinamarca
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Congenital Hypothyroidism / Diabetes Mellitus / HSP40 Heat-Shock Proteins / Mutation / Nerve Degeneration Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Clin Genet Year: 2017 Document type: Article Affiliation country: Alemania Country of publication: Dinamarca