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Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma.
Scholz, C; Golas, M M; Weber, R G; Hartmann, C; Lehmann, U; Sahm, F; Schmidt, G; Auber, B; Sturm, M; Schlegelberger, B; Illig, T; Steinemann, D; Hofmann, W.
Afiliación
  • Scholz C; Department of Human Genetics, Hannover Medical School, Hanover, Germany.
  • Golas MM; Department of Human Genetics, Hannover Medical School, Hanover, Germany.
  • Weber RG; Department of Human Genetics, Hannover Medical School, Hanover, Germany.
  • Hartmann C; Department of Neuropathology, Hannover Medical School, Hanover, Germany.
  • Lehmann U; Institute of Pathology, Hannover Medical School, Hanover, Germany.
  • Sahm F; Institute of Pathology, Hannover Medical School, Hanover, Germany.
  • Schmidt G; Department of Neuropathology, Institute of Pathology, University of Heidelberg, Heidelberg, Germany.
  • Auber B; CCU Neuropathology, German Consortium for Translational Cancer Research, German Cancer Research Center, Heidelberg, Germany.
  • Sturm M; Department of Human Genetics, Hannover Medical School, Hanover, Germany.
  • Schlegelberger B; Department of Human Genetics, Hannover Medical School, Hanover, Germany.
  • Illig T; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Steinemann D; Department of Human Genetics, Hannover Medical School, Hanover, Germany.
  • Hofmann W; Department of Human Genetics, Hannover Medical School, Hanover, Germany.
Clin Genet ; 94(1): 185-186, 2018 07.
Article en En | MEDLINE | ID: mdl-29498415
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Apraxias / Astrocitoma / Fosfotransferasas (Aceptor de Grupo Alcohol) / Enzimas Reparadoras del ADN / Síndrome de Cogan / Secuenciación del Exoma / Heterocigoto Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Alemania
Texto completo
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PubMed Links
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Apraxias / Astrocitoma / Fosfotransferasas (Aceptor de Grupo Alcohol) / Enzimas Reparadoras del ADN / Síndrome de Cogan / Secuenciación del Exoma / Heterocigoto Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Female / Humans Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Alemania