Wong, Maggie-M-K; Kampen, Rosalie-A; Braden, Ruth-O; Alagoz, Gokberk; Hildebrand, Michael-S; Dingemans, Alexander-J-M; Corbally, Jean; den-Hoed, Joery; Mendoza, Ezequiel; Claassen, Willemijn-J-J; Barnett, Christopher; Barnett, Meghan; Brusco, Alfredo; Carli, Diana; de-Vries, Bert-B-A; Elmslie, Frances; Ferrero, Giovanni-Battista; Jansen, Nadieh-A; van-de-Laar, Ingrid-M-B-H; Moroni, Alice; Mowat, David; Murray, Lucinda; Novara, Francesca; Peron, Ángela; Scheffer, Ingrid-E; Sirchia, Fabio; Turner, Samantha-J; Vignoli, Aglaia; Vino, Arianna; Weber, Sacha; Chung, Wendy-K; Gerard, Marion; López-González, Vanesa; Palmer, Elizabeth; Morgan, Angela-T; van-Bon, Bregje-W; Fisher, Simon-E
(NATURE PORTFOLIO, 2025-10-10)
Different types of germline de novo SETBP1 variants cause clinically distinct and heterogeneous neurodevelopmental disorders: Schinzel-Giedion syndrome (SGS, via missense variants at a critical degron region) and ...