Litcius/Paper detail

Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

Norine Voisin, Rhonda E. Schnur, Sofia Douzgou, Susan M. Hiatt, Cecilie F. Rustad, Natasha J. Brown, Dawn Earl, Boris Keren, Olga Levchenko, Sinje Geuer, Sarah Verheyen, Diana Johnson, Yuri A. Zárate, Miroslava Hančárová, David J. Amor, E. Martina Bebin, Jasmin Blatterer, Alfredo Brusco, Gerarda Cappuccio, Joel Charrow, Nicolas Chatron, Gregory M. Cooper, Thomas Courtin, Е. Л. Дадали, Julien Delafontaine, Ennio Del Giudice, Martine Doco, Ganka Douglas, Astrid Eisenkölbl, Tara Funari, Giuliana Giannuzzi, U Gruber‐Sedlmayr, Nicolas Guex, Delphine Héron, Øystein L. Holla, Anna Hurst, Jane Juusola, David Kronn, А. В. Лавров, Crystle Lee, Séverine Lorrain, Else Merckoll, Anna Mikhaleva, Jennifer Norman, Sylvain Pradervand, Darina Prchalová, Lindsay Rhodes, Victoria R. Sanders, Zdeněk Sedláček, Heidelis A. Seebacher, Elizabeth A. Sellars, Fabio Sirchia, Toshiki Takenouchi, Akemi Tanaka, Heidi Taska-Tench, Elin Tønne, Kristian Tveten, Giuseppina Vitiello, Markéta Vlčková, Tomoko Uehara, Caroline Nava, Binnaz Yalcin, Kenjiro Kosaki, Dian Donnai, Stefan Mundlos, Nicola Brunetti‐Pierri, Wendy K. Chung, Alexandre Reymond

2021The American Journal of Human Genetics44 citationsDOIOpen Access PDF

Topics & Concepts

Horseshoe kidneyMissense mutationBiologyZebrafishPhenotypeGeneticsUbiquitin ligaseTranscription factorDysplasiaAtaxiaDegronGeneKidneyUbiquitinNeuroscienceUbiquitin and proteasome pathwaysGenetics and Neurodevelopmental DisordersCancer-related gene regulation