Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
Titel:
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
Auteur:
Voisin, Norine Schnur, Rhonda E. Douzgou, Sofia Hiatt, Susan M. Rustad, Cecilie F. Brown, Natasha J. Earl, Dawn L. Keren, Boris Levchenko, Olga Geuer, Sinje Verheyen, Sarah Johnson, Diana Zarate, Yuri A. Hančárová, Miroslava Amor, David J. Bebin, E. Martina Blatterer, Jasmin Brusco, Alfredo Cappuccio, Gerarda Charrow, Joel Chatron, Nicolas Cooper, Gregory M. Courtin, Thomas Dadali, Elena Delafontaine, Julien Del Giudice, Ennio Doco, Martine Douglas, Ganka Eisenkölbl, Astrid Funari, Tara Giannuzzi, Giuliana Gruber-Sedlmayr, Ursula Guex, Nicolas Heron, Delphine Holla, Øystein L. Hurst, Anna C.E. Juusola, Jane Kronn, David Lavrov, Alexander Lee, Crystle Lorrain, Séverine Merckoll, Else Mikhaleva, Anna Norman, Jennifer Pradervand, Sylvain Prchalová, Darina Rhodes, Lindsay Sanders, Victoria R. Sedláček, Zdeněk Seebacher, Heidelis A. Sellars, Elizabeth A. Sirchia, Fabio Takenouchi, Toshiki Tanaka, Akemi J. Taska-Tench, Heidi Tønne, Elin Tveten, Kristian Vitiello, Giuseppina Vlčková, Markéta Uehara, Tomoko Nava, Caroline Yalcin, Binnaz Kosaki, Kenjiro Donnai, Dian Mundlos, Stefan Brunetti-Pierri, Nicola Chung, Wendy K. Reymond, Alexandre