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

Norine Voisin(University of Lausanne), Heidelis A. Seebacher(Medical University of Graz), Susan M. Hiatt(HudsonAlpha Institute for Biotechnology), Cecilie F. Rustad(Oslo University Hospital), Boris Keren(Sorbonne Université), Anna Mikhaleva(University of Lausanne), Øystein L. Holla(Telemark Hospital), Else Merckoll(Oslo University Hospital), Tara Funari, Astrid Eisenkölbl(Kepler Universitätsklinikum), Lindsay Rhodes, Rhonda E. Schnur(Cooper Medical School of Rowan University), Gregory M. Cooper(HudsonAlpha Institute for Biotechnology), Sarah Verheyen(Medical University of Graz), Jasmin Blatterer(Medical University of Graz), Natasha J. Brown(New South Wales Department of Health), Sinje Geuer(Max Planck Institute for Molecular Genetics), Sofia Douzgou(University of Manchester), Giuliana Giannuzzi(University of Lausanne), Sylvain Pradervand(SIB Swiss Institute of Bioinformatics), Yuri A. Zárate(University of Kentucky), Thomas Courtin(Sorbonne Université), Gerarda Cappuccio(Telethon Institute Of Genetics And Medicine), Martine Doco(Centre Hospitalier Universitaire de Reims), Dawn Earl(Seattle Children's Hospital), Olga Levchenko(Research Centre for Medical Genetics), Nicolas Guex(University of Lausanne), Е. Л. Дадали(Research Centre for Medical Genetics), Ganka Douglas, Jennifer Norman(Integris Health), А. В. Лавров(Research Centre for Medical Genetics), Alfredo Brusco(Azienda Ospedaliera Citta' della Salute e della Scienza di Torino), Julien Delafontaine(SIB Swiss Institute of Bioinformatics), Jane Juusola, Miroslava Hančárová(Charles University), Séverine Lorrain(University of Lausanne), David J. Amor(The University of Melbourne), U Gruber‐Sedlmayr(Medical University of Graz), Ennio Del Giudice(Federico II University Hospital), Darina Prchalová(Charles University), Nicolas Chatron(Hospices Civils de Lyon), E. Martina Bebin(University of Alabama at Birmingham), Anna Hurst(University of Alabama at Birmingham), Delphine Héron(Sorbonne Université), Diana Johnson(Sheffield Children's NHS Foundation Trust), David Kronn(Westchester Medical Center), Joel Charrow(Northwestern University), Zdeněk Sedláček(Charles University), Victoria R. Sanders(Lurie Children's Hospital), Crystle Lee(Victorian Clinical Genetics Services)
The American Journal of Human Genetics
May 1, 2021
Cited by 45


Related Papers