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Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele-de Vries syndrome).
Carminho-Rodrigues, Maria Teresa; Steel, Dora; Sousa, Sergio B; Brandt, Gregor; Guipponi, Michel; Laurent, Sacha; Fokstuen, Siv; Moren, Aurea; Zacharia, André; Dirren, Elisabeth; Oliveira, Renata; Kurian, Manju A; Burkhard, Pierre R; Bally, Julien F.
Afiliação
  • Carminho-Rodrigues MT; Department of Genetics, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland.
  • Steel D; Departement of Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.
  • Brandt G; Neurologische Klinik, Klinik und Poliklinik des Universitätsklinikums Würzburg, Würzburg, Germany.
  • Guipponi M; Department of Genetics, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland.
  • Laurent S; Department of Genetics, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland.
  • Fokstuen S; Department of Genetics, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland.
  • Moren A; Department of Neurology, Movement Disorders Unit, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland.
  • Zacharia A; Department of Neurology, Movement Disorders Unit, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland.
  • Dirren E; Department of Neurology, Movement Disorders Unit, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland.
  • Oliveira R; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.
  • Kurian MA; Medical Genetics Unit, Centro Hospitalar e Universitário de São João, Porto, Portugal.
  • Burkhard PR; Departement of Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
  • Bally JF; Department of Neurology, Movement Disorders Unit, University of Geneva & University Hospitals of Geneva, Geneva, Switzerland.
Am J Med Genet A ; 182(9): 2129-2132, 2020 09.
Article em En | MEDLINE | ID: mdl-32627382
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fator de Transcrição YY1 / Transtornos do Neurodesenvolvimento / Transtornos dos Movimentos Idioma: En Revista: Am J Med Genet A Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Suíça
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fator de Transcrição YY1 / Transtornos do Neurodesenvolvimento / Transtornos dos Movimentos Idioma: En Revista: Am J Med Genet A Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Suíça