Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature
BMC Pediatr. 2024 May 6;24(1):309. doi: 10.1186/s12887-024-04779-y. ABSTRACT Schinzel-Giedion syndrome (SGS) is a severe multisystem disorder characterized by distinctive facial features, profound intellectual disability, refractory …