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Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination.
Trimouille, Aurélien; Marguet, Florent; Sauvestre, Fanny; Lasseaux, Eulalie; Pelluard, Fanny; Martin-Négrier, Marie-Laure; Plaisant, Claudio; Rooryck, Caroline; Lacombe, Didier; Arveiler, Benoît; Boespflug-Tanguy, Odile; Naudion, Sophie; Laquerrière, Annie.
Afiliação
  • Trimouille A; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.
  • Marguet F; Bordeaux Univ, INSERM U1211, Bordeaux University Hospital, Bordeaux, France.
  • Sauvestre F; Normandie Univ, UNIROUEN, INSERM U1245, Rouen University Hospital, Department of Pathology, F76000, Rouen, France.
  • Lasseaux E; Department of Pathology, Bordeaux University Hospital, Bordeaux, France.
  • Pelluard F; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.
  • Martin-Négrier ML; Department of Pathology, Bordeaux University Hospital, Bordeaux, France.
  • Plaisant C; Department of Pathology, Bordeaux University Hospital, Bordeaux, France.
  • Rooryck C; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.
  • Lacombe D; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.
  • Arveiler B; Bordeaux Univ, INSERM U1211, Bordeaux University Hospital, Bordeaux, France.
  • Boespflug-Tanguy O; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.
  • Naudion S; Bordeaux Univ, INSERM U1211, Bordeaux University Hospital, Bordeaux, France.
  • Laquerrière A; Department of Medical Genetics, Bordeaux University Hospital, Bordeaux, France.
Acta Neuropathol Commun ; 8(1): 48, 2020 04 15.
Article em En | MEDLINE | ID: mdl-32293553
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator de Iniciação 2B em Eucariotos / Leucoencefalopatias Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male / Pregnancy Idioma: En Revista: Acta Neuropathol Commun Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator de Iniciação 2B em Eucariotos / Leucoencefalopatias Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male / Pregnancy Idioma: En Revista: Acta Neuropathol Commun Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França País de publicação: Reino Unido