Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome

Date Issued
2018
Author(s)
Paolacci, Stefano
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
Arboleda, Humberto
Lopez-Otin, Carlos
Tartaglia, Marco
Hennekam, Raoul C
DOI
10.1136/jmedgenet-2018-105528