Specific combinations of biallelic <i>POLR3A</i> variants cause Wiedemann-Rautenstrauch syndrome
Stefano Paolacci(Unknown), Raoul C. M. Hennekam(University of Amsterdam), Emanuele Agolini(Bambino Gesù Children's Hospital), Mariel Alders(University of Amsterdam), Antonio Novelli(Bambino Gesù Children's Hospital), Gloria Velasco(Universidad de Oviedo), Alessandro Bruselles(Istituto Superiore di Sanità), Filippo Beleggia(University of Cologne), Lihadh Al‐Gazali(United Arab Emirates University), Janine Altmüller(Max Delbrück Center), Humberto Arboleda(Universidad Nacional de Colombia), Dido Carrero(Universidad de Oviedo), Marco Tartaglia(Bambino Gesù Children's Hospital), Andrea Ciolfi(Bambino Gesù Children's Hospital), Débora Romeo Bertola(Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo), Jenny Ortega(Universidad Nacional de Colombia), Thomas Krieg(University of Cologne), Gökhan Yigit(Universitätsmedizin Göttingen), Bernd Wollnik(University of Göttingen), Carlos López-Otı́n(Inserm), Yun Li(Nanjing University of Chinese Medicine), Christian Müller(Universitätsmedizin Göttingen), Carlos Bustos(Universidad Nacional de Colombia), Shehla Mohammed(Guy's Hospital), Gabriele Gillessen‐Kaesbach(University Hospital Schleswig-Holstein), Gonzálo Arboleda(Universidad Nacional de Colombia), Adrian Sandoval(Universidad Nacional de Colombia), Emanuele Bellacchio(Istituti di Ricovero e Cura a Carattere Scientifico)
Cited by 63
Related Papers
Signatures of mutational processes in human cancer
|Nature|2013|10.1k
Molecular definitions of autophagy and related processes
|The EMBO Journal|2017|1.6k
Autophagy in major human diseases
|The EMBO Journal|2021|1.6k