Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome
2018 | journal article; research paper. A publication with affiliation to the University of Göttingen.
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Cite this publication
Paolacci, S., Li, Y., Agolini, E., Bellacchio, E., Arboleda-Bustos, C. E, Carrero, D., Bertola, D. ... Hennekam, R. C (2018). Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. Journal of Medical Genetics, 55(12), 837-846. doi: https://doi.org/10.1136/jmedgenet-2018-105528
Documents & Media
Details
- Authors
- 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
- Issue Date
- 2018
- Journal
- Journal of Medical Genetics
- Project
- SFB 1002: Modulatorische Einheiten bei Herzinsuffizienz
SFB 1002 | D02: Neue Mechanismen der genomischen Instabilität bei Herzinsuffizienz - Working Group
- RG Wollnik
- Language
- English
