Aetiology

  • Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome
    Stefano Paolacci, Yun Li, Emanuele Agolini, Emanuele Bellacchio, Carlos E Arboleda-Bustos, Dido Carrero, Debora Bertola, Lihadh Al-Gazali, Mariel Alders, Janine Altmüller, Gonzalo Arboleda, Filippo Beleggia, Alessandro Bruselles, Andrea Ciolfi, Gabriele Gillessen-Kaesbach, Thomas Krieg, Shehla Mohammed, Christian Müller, Antonio Novelli, Jenny Ortega, Adrian Sandoval, Gloria Velasco, Gökhan Yigit, Humberto Arboleda, Carlos Lopez-Otin, Bernd Wollnik, Marco Tartaglia, Raoul C Hennekam
  • High rate of mosaicism in individuals with Cornelia de Lange syndrome
    Sylvia A Huisman, Egbert J W Redeker, Saskia M Maas, Marcel M Mannens, Raoul C M Hennekam