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Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome.
Paolacci, Stefano; Li, Yun; Agolini, Emanuele; Bellacchio, Emanuele; Arboleda-Bustos, Carlos E; Carrero, Dido; Bertola, Debora; Al-Gazali, Lihadh; Alders, Mariel; Altmüller, Janine; Arboleda, Gonzalo; Beleggia, Filippo; Bruselles, Alessandro; Ciolfi, Andrea; Gillessen-Kaesbach, Gabriele; Krieg, Thomas; Mohammed, Shehla; Müller, Christian; Novelli, Antonio; Ortega, Jenny; Sandoval, Adrian; Velasco, Gloria; Yigit, Gökhan; Arboleda, Humberto; Lopez-Otin, Carlos; Wollnik, Bernd; Tartaglia, Marco; Hennekam, Raoul C.
Afiliação
  • Paolacci S; Department of Experimental Medicine, Sapienza "University of Rome", Rome, Italy.
  • Li Y; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Agolini E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Roma, Italy.
  • Bellacchio E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Roma, Italy.
  • Arboleda-Bustos CE; Neuroscience and Cell Death Group, Faculty of Medicine and Institute of Genetics, Universidad Nacional de Colombia, Bogota, Colombia.
  • Carrero D; Departamento de Bioquímica y Biología Molecular, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, and Centro de Investigación Biomédica en Red de Cáncer, Oviedo, Spain.
  • Bertola D; Unidade de Genética do Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, e Centro de Estudos sobre o Genoma Humano e Células-Tronco do Instituto de Biociências da Universidade de São Paulo, São Paulo, Brazil.
  • Al-Gazali L; Department of Paediatric, College of Medicine and Health Science, United Arab Emirates University, Al Ain, United Arab Emirates.
  • Alders M; Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Altmüller J; Cologne Centre for Genomics and Centre for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
  • Arboleda G; Neuroscience and Cell Death Group, Faculty of Medicine and Institute of Genetics, Universidad Nacional de Colombia, Bogota, Colombia.
  • Beleggia F; Department of Internal Medicine I, University Hospital Cologne, Cologne, Germany.
  • Bruselles A; Dipartimento di Oncologia e Medicina Molecolare, Istituto Superiore di Sanità, Rome, Italy.
  • Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Roma, Italy.
  • Gillessen-Kaesbach G; Institute of Human Genetics, University of Lübeck, Lübeck, Germany.
  • Krieg T; Department of Dermatology, University Hospital Cologne, Cologne, Germany.
  • Mohammed S; Department of Clinical Genetics, Guy's Hospital, London, UK.
  • Müller C; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Novelli A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Roma, Italy.
  • Ortega J; Neuroscience and Cell Death Group, Faculty of Medicine and Institute of Genetics, Universidad Nacional de Colombia, Bogota, Colombia.
  • Sandoval A; Neuroscience and Cell Death Group, Faculty of Medicine and Institute of Genetics, Universidad Nacional de Colombia, Bogota, Colombia.
  • Velasco G; Departamento de Bioquímica y Biología Molecular, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, and Centro de Investigación Biomédica en Red de Cáncer, Oviedo, Spain.
  • Yigit G; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Arboleda H; Neuroscience and Cell Death Group, Faculty of Medicine and Institute of Genetics, Universidad Nacional de Colombia, Bogota, Colombia.
  • Lopez-Otin C; Departamento de Bioquímica y Biología Molecular, Instituto Universitario de Oncología (IUOPA), Universidad de Oviedo, and Centro de Investigación Biomédica en Red de Cáncer, Oviedo, Spain.
  • Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  • Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Roma, Italy.
  • Hennekam RC; Department of Paediatrics, Amsterdam UMC - location AMC, University of Amsterdam, Amsterdam, The Netherlands.
J Med Genet ; 55(12): 837-846, 2018 12.
Article em En | MEDLINE | ID: mdl-30323018
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Progéria / Variação Genética / RNA Polimerase III / Predisposição Genética para Doença / Alelos / Estudos de Associação Genética / Retardo do Crescimento Fetal Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Progéria / Variação Genética / RNA Polimerase III / Predisposição Genética para Doença / Alelos / Estudos de Associação Genética / Retardo do Crescimento Fetal Tipo de estudo: Prognostic_studies Limite: Adult / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article