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Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
Capo-Chichi, José-Mario; Boissel, Sarah; Brustein, Edna; Pickles, Sarah; Fallet-Bianco, Catherine; Nassif, Christina; Patry, Lysanne; Dobrzeniecka, Sylvia; Liao, Meijiang; Labuda, Damian; Samuels, Mark E; Hamdan, Fadi F; Vande Velde, Christine; Rouleau, Guy A; Drapeau, Pierre; Michaud, Jacques L.
Afiliación
  • Capo-Chichi JM; CHU Sainte-Justine Research Center, Université de Montréal, Montreal, Canada.
  • Boissel S; Department of Neurosciences, Université de Montréal, Montreal, Canada.
  • Brustein E; Department of Neurosciences, Université de Montréal, Montreal, Canada.
  • Pickles S; CHUM Research Center, Université de Montréal, Montreal, Canada.
  • Fallet-Bianco C; Department of Pathology, CHU Sainte-Justine and Université de Montréal, Montréal, Québec.
  • Nassif C; CHU Sainte-Justine Research Center, Université de Montréal, Montreal, Canada.
  • Patry L; CHU Sainte-Justine Research Center, Université de Montréal, Montreal, Canada.
  • Dobrzeniecka S; CHUM Research Center, Université de Montréal, Montreal, Canada.
  • Liao M; Department of Neurosciences, Université de Montréal, Montreal, Canada CHUM Research Center, Université de Montréal, Montreal, Canada.
  • Labuda D; CHU Sainte-Justine Research Center, Université de Montréal, Montreal, Canada Department of Pediatrics, Université de Montréal, Montreal, Canada.
  • Samuels ME; CHU Sainte-Justine Research Center, Université de Montréal, Montreal, Canada Department of Pediatrics, Université de Montréal, Montreal, Canada.
  • Hamdan FF; CHU Sainte-Justine Research Center, Université de Montréal, Montreal, Canada.
  • Vande Velde C; Department of Neurosciences, Université de Montréal, Montreal, Canada CHUM Research Center, Université de Montréal, Montreal, Canada.
  • Rouleau GA; Montreal Neurological Institute, McGill University, Montreal, Canada.
  • Drapeau P; Department of Neurosciences, Université de Montréal, Montreal, Canada CHUM Research Center, Université de Montréal, Montreal, Canada.
  • Michaud JL; CHU Sainte-Justine Research Center, Université de Montréal, Montreal, Canada Department of Neurosciences, Université de Montréal, Montreal, Canada Department of Pediatrics, Université de Montréal, Montreal, Canada.
J Med Genet ; 52(5): 303-11, 2015 May.
Article en En | MEDLINE | ID: mdl-25650066
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías / Endopeptidasa Clp / Estudios de Asociación Genética / Errores Innatos del Metabolismo / Microcefalia Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Humans / Newborn Idioma: En Revista: J Med Genet Año: 2015 Tipo del documento: Article País de afiliación: Canadá
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías / Endopeptidasa Clp / Estudios de Asociación Genética / Errores Innatos del Metabolismo / Microcefalia Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Humans / Newborn Idioma: En Revista: J Med Genet Año: 2015 Tipo del documento: Article País de afiliación: Canadá