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A novel lethal recognizable polymicrogyric syndrome caused by ATP1A2 homozygous truncating variants.
Chatron, Nicolas; Cabet, Sara; Alix, Eudeline; Buenerd, Annie; Cox, Phillip; Guibaud, Laurent; Labalme, Audrey; Marks, Peter; Osio, Deborah; Putoux, Audrey; Sanlaville, Damien; Lesca, Gaetan; Vasiljevic, Alexandre.
Afiliación
  • Chatron N; Genetics Department, Hospices Civils de Lyon, Lyon, France.
  • Cabet S; GENDEV Team, CRNL, INSERM U1028, CNRS UMR 5292, UCBL1, Lyon, France.
  • Alix E; Imagerie pédiatrique et fœtale, UCBL Lyon I, Hôpital Femme Mère Enfant, Lyon-Bron, France.
  • Buenerd A; Genetics Department, Hospices Civils de Lyon, Lyon, France.
  • Cox P; Institut de Pathologie Multi-sites des HCL/Centre de Pathologie et Fœtopathologie Est, Lyon, France.
  • Guibaud L; Department of Histopathology, Birmingham Women's and Children's Hospital NHSFT, Birmingham, UK.
  • Labalme A; Imagerie pédiatrique et fœtale, UCBL Lyon I, Hôpital Femme Mère Enfant, Lyon-Bron, France.
  • Marks P; Genetics Department, Hospices Civils de Lyon, Lyon, France.
  • Osio D; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital NHSFT, Birmingham, UK.
  • Putoux A; West Midlands Regional Genetics Service, Birmingham Women's and Children's Hospital NHSFT, Birmingham, UK.
  • Sanlaville D; Genetics Department, Hospices Civils de Lyon, Lyon, France.
  • Lesca G; GENDEV Team, CRNL, INSERM U1028, CNRS UMR 5292, UCBL1, Lyon, France.
  • Vasiljevic A; Genetics Department, Hospices Civils de Lyon, Lyon, France.
Brain ; 142(11): 3367-3374, 2019 11 01.
Article en En | MEDLINE | ID: mdl-31608932
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: ATPasa Intercambiadora de Sodio-Potasio / Malformaciones del Desarrollo Cortical / Hemiplejía Tipo de estudio: Diagnostic_studies Idioma: En Revista: Brain Año: 2019 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: ATPasa Intercambiadora de Sodio-Potasio / Malformaciones del Desarrollo Cortical / Hemiplejía Tipo de estudio: Diagnostic_studies Idioma: En Revista: Brain Año: 2019 Tipo del documento: Article