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 Altmuller, Gonzalo Arboleda, Filippo Beleggia, Alessandro Bruselles, Andrea Ciolfi, Gabriele Gillessen-Kaesbach, Thomas Krieg, Shehla Mohammed, Christian Muller, Antonio Novelli, Jenny OrtegaAdrian Sandoval, Gloria Velasco, Gokhan Yigit, Humberto Arboleda, Carlos Lopez-Otin, Bernd Wollnik, Marco Tartaglia, Raoul C. Hennekam

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Medicine & Life Sciences