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Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.
Meerschaut, Ilse; Bordon, Victoria; Dhooge, Catharina; Delbeke, Patricia; Vanlander, Arnaud V; Simon, Amos; Klein, Christoph; Kooy, R Frank; Somech, Raz; Callewaert, Bert.
Afiliación
  • Meerschaut I; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Bordon V; Department of Pediatric Hemato-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium.
  • Dhooge C; Department of Pediatric Hemato-Oncology and Stem Cell Transplantation, Ghent University Hospital, Ghent, Belgium.
  • Delbeke P; Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium.
  • Vanlander AV; Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium.
  • Simon A; Pediatric Immunology Lab, Jeffrey Modell Foundation (JMF) Center, Sheba Medical Center, Tel Hashomer, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Israel.
  • Klein C; Dr. von Hauner Children's Hospital, Ludwig Maximilians University, München, Germany.
  • Kooy RF; Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
  • Somech R; Pediatric Immunology Lab, Jeffrey Modell Foundation (JMF) Center, Sheba Medical Center, Tel Hashomer, affiliated to the Sackler Faculty of Medicine, Tel Aviv University, Israel.
  • Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Am J Med Genet A ; 167A(12): 3214-8, 2015 Dec.
Article en En | MEDLINE | ID: mdl-26358756
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Transporte Vesicular / Homocigoto / Mutación / Enfermedades del Sistema Nervioso / Neutropenia Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Bélgica Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas de Transporte Vesicular / Homocigoto / Mutación / Enfermedades del Sistema Nervioso / Neutropenia Tipo de estudio: Prognostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2015 Tipo del documento: Article País de afiliación: Bélgica Pais de publicación: Estados Unidos