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A further case of familial ring chromosome 20 mosaicism - molecular characterization of the ring and review of the literature.
Unterberger, Iris; Dobesberger, Judith; Schober, Harald; Krabichler, Birgit; Lamina, Claudia; Schatz, Ulrich; Zschocke, Johannes; Luef, Gerhard; Kotzot, Dieter; Fauth, Christine.
Afiliación
  • Unterberger I; Department of Neurology, Innsbruck Medical University, Anichstraße 35, A-6020 Innsbruck, Austria.
  • Dobesberger J; Department of Neurology, Innsbruck Medical University, Anichstraße 35, A-6020 Innsbruck, Austria; Department of Neurology, Christian Doppler Klinik, Paracelsus Medical University of Salzburg, Ignaz-Harrer-Straße 79, A-5020 Salzburg, Austria.
  • Schober H; Department of Pediatrics, Landeskrankenhaus Feldkirch, Carinagasse 47, A-6807 Feldkirch, Austria.
  • Krabichler B; Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Peter-Mayr-Straße 1, A-6020 Innsbruck, Austria.
  • Lamina C; Division of Genetic Epidemiology, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Schöpfstraße 41, A-6020 Innsbruck, Austria.
  • Schatz U; Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Peter-Mayr-Straße 1, A-6020 Innsbruck, Austria.
  • Zschocke J; Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Peter-Mayr-Straße 1, A-6020 Innsbruck, Austria.
  • Luef G; Department of Neurology, Innsbruck Medical University, Anichstraße 35, A-6020 Innsbruck, Austria.
  • Kotzot D; Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Peter-Mayr-Straße 1, A-6020 Innsbruck, Austria.
  • Fauth C; Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology, Innsbruck Medical University, Peter-Mayr-Straße 1, A-6020 Innsbruck, Austria. Electronic address: Christine.fauth@i-med.ac.at.
Eur J Med Genet ; 62(11): 103564, 2019 Nov.
Article en En | MEDLINE | ID: mdl-30385235
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cromosomas en Anillo / Cromosomas Humanos Par 20 / Epilepsia Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Austria
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Cromosomas en Anillo / Cromosomas Humanos Par 20 / Epilepsia Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2019 Tipo del documento: Article País de afiliación: Austria