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A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL.
Beauregard-Lacroix, Eliane; Salian, Smrithi; Kim, Hyunyun; Ehresmann, Sophie; DʹAmours, Guylaine; Gauthier, Julie; Saillour, Virginie; Bernard, Geneviève; Mitchell, Grant A; Soucy, Jean-François; Michaud, Jacques L; Campeau, Philippe M.
Afiliação
  • Beauregard-Lacroix E; Medical Genetics Division, Department of Pediatrics, Sainte-Justine University Hospital Center, Montreal, QC, Canada.
  • Salian S; CHU Sainte Justine Research Center, Université de Montréal, Montreal, QC, Canada.
  • Kim H; CHU Sainte Justine Research Center, Université de Montréal, Montreal, QC, Canada.
  • Ehresmann S; CHU Sainte Justine Research Center, Université de Montréal, Montreal, QC, Canada.
  • DʹAmours G; Medical Genetics Division, Department of Pediatrics, Sainte-Justine University Hospital Center, Montreal, QC, Canada.
  • Gauthier J; CHU Sainte Justine Research Center, Université de Montréal, Montreal, QC, Canada.
  • Saillour V; Medical Biological Unit, Molecular Diagnostic Laboratory, Sainte-Justine University Hospital Center, Montreal, QC, Canada.
  • Bernard G; Integrated Centre for Pediatric Clinical Genomics, Génome Québec and Sainte-Justine University Hospital Center, Montreal, QC, Canada.
  • Mitchell GA; Medical Biological Unit, Molecular Diagnostic Laboratory, Sainte-Justine University Hospital Center, Montreal, QC, Canada.
  • Soucy JF; Integrated Centre for Pediatric Clinical Genomics, Génome Québec and Sainte-Justine University Hospital Center, Montreal, QC, Canada.
  • Michaud JL; Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, QC, Canada.
  • Campeau PM; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Center, Montreal, QC, Canada.
Eur J Hum Genet ; 28(4): 461-468, 2020 04.
Article em En | MEDLINE | ID: mdl-31695177
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Progéria / RNA Polimerase III / Códon sem Sentido / Retardo do Crescimento Fetal Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Progéria / RNA Polimerase III / Códon sem Sentido / Retardo do Crescimento Fetal Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child, preschool / Female / Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article