...Emanuela Scarano; Martina Tassone; Claudio Graziano; Dino Gibertoni; Federica Tamburrino; Annamaria Perri; Maria Gnazzo; Giulia Severi; Francesca Lepri; Laura Mazzanti KBG syndrome is an autosomal dominant disorder caused by pathogenic variants within ANKRD11 or deletions of 16q24.3 which include...

... with the KBG syndrome, which is caused by mutations within the ANKRD11 gene. Furthermore, both KBG and the 16q24.3 microdeletion syndromes show clinical findings reminiscent of Silver-Russell syndrome (SRS), an imprinting disorder characterized by severe primordial growth retardation. In a cohort of patients...