Variants in the degron of <i>AFF3</i> cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy
Norine Voisin(University of Lausanne), Nicola Brunetti‐Pierri(Federico II University Hospital), 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, Rhonda E. Schnur(Cooper Medical School of Rowan University), Stefan Mundlos(Humboldt-Universität zu Berlin), Binnaz Yalcin(Université Claude Bernard Lyon 1), Gregory M. Cooper(HudsonAlpha Institute for Biotechnology), Caroline Nava(Centre National de la Recherche Scientifique), Kristian Tveten(Telemark Hospital), Natasha J. Brown(New South Wales Department of Health), Heidi Taska-Tench(Lurie Children's Hospital), 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), Gerarda Cappuccio(Telethon Institute Of Genetics And Medicine), Dawn Earl(Seattle Children's Hospital), Olga Levchenko(Research Centre for Medical Genetics), Fabio Sirchia(IRCCS Materno Infantile Burlo Garofolo), Giuseppina Vitiello(Federico II University Hospital), Nicolas Guex(University of Lausanne), Е. Л. Дадали(Research Centre for Medical Genetics), Ganka Douglas, Akemi Tanaka(Columbia University), Elin Tønne(Oslo University Hospital), Jennifer Norman(Integris Health), А. В. Лавров(Research Centre for Medical Genetics), Alfredo Brusco(Azienda Ospedaliera Citta' della Salute e della Scienza di Torino), Toshiki Takenouchi(Keio University), Julien Delafontaine(SIB Swiss Institute of Bioinformatics), Jane Juusola, Dian Donnai(Manchester University NHS Foundation Trust), David J. Amor(The University of Melbourne), Tomoko Uehara(Keio University), Ennio Del Giudice(Federico II University Hospital), Kenjiro Kosaki(Keio 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), David Kronn(Westchester Medical Center), Joel Charrow(Northwestern University), Crystle Lee(Victorian Clinical Genetics Services), Victoria R. Sanders(Lurie Children's Hospital), Susan M. Hiatt(HudsonAlpha Institute for Biotechnology)
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