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

Voisin, NorineSchnur, Rhonda E.Douzgou, SofiaHiatt, Susan M.Rustad, Cecilie F.Brown, Natasha J.Earl, Dawn L.Keren, BorisLevchenko, OlgaGeuer, SinjeVerheyen, SarahJohnson, DianaZarate, Yuri A.Hančárová, MiroslavaAmor, David J.Bebin, E. MartinaBlatterer, JasminBrusco, AlfredoCappuccio, GerardaCharrow, JoelChatron, NicolasCooper, Gregory M.Courtin, ThomasDadali, ElenaDelafontaine, JulienDel Giudice, EnnioDoco, MartineDouglas, GankaEisenkölbl, AstridFunari, TaraGiannuzzi, GiulianaGruber-Sedlmayr, UrsulaGuex, NicolasHeron, DelphineHolla, Øystein L.Hurst, Anna C.E.Juusola, JaneKronn, DavidLavrov, AlexanderLee, CrystleLorrain, SéverineMerckoll, ElseMikhaleva, AnnaNorman, JenniferPradervand, SylvainPrchalová, DarinaRhodes, LindsaySanders, Victoria R.Sedláček, ZdeněkSeebacher, Heidelis A.Sellars, Elizabeth A.Sirchia, FabioTakenouchi, ToshikiTanaka, Akemi J.Taska-Tench, HeidiTønne, ElinTveten, KristianVitiello, GiuseppinaVlčková, MarkétaUehara, TomokoNava, CarolineYalcin, BinnazKosaki, KenjiroDonnai, DianMundlos, StefanBrunetti-Pierri, NicolaChung, Wendy K.Reymond, Alexandre2023-04-122023-04-122023-04-12202110.1016/j.ajhg.2021.04.001https://infoscience.epfl.ch/handle/20.500.14299/196937Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathytext::journal::journal article::research article