Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Francesca PelusoStefano G CaraffiGianluca ContròLara ValeriManuela NapoliGiorgia CarboniAlka SethRoberta ZuntiniEmanuele CocciaGuja AstreaAnne-Marie BisgaardIvan IvanovskiSilvia MaitzElise Brischoux-BoucherMelissa T CarterMaria Lisa DenticiKoenraad DevriendtMelissa BelliniMaria Cristina DigilioAsif DojaDavid A DymentStense FarholtCarlos R FerreiraLynne A WolfeWilliam A GahlMaria GnazzoHimanshu GoelSabine Weller GrønborgTrine HammerLorenzo IughettiTjitske KleefstraDavid A KoolenFrancesca Romana LepriGabrielle LemirePedro LouroGary McCullaghSimona F MadeoAnnarita MiloneRoberta MiloneJens Erik Klint NielsenAntonio NovelliCharlotte W OckeloenRosario PascarellaTommaso PippucciIvana RiccaStephen P RobertsonSarah SawyerMarie Falkenberg SmelandSander StegmannConstanze T StumpelAmy GoelJuliet M TaylorDomenico BarbutiAnnarosa SoresinaMaria Francesca BedeschiRoberta BattiniAnna CavalliCarlo FuscoMaria IasconeLionel Van MaldergemSunita VenkateswaranOrsetta ZuffardiSamantha VerganoLivia GaravelliAllan BayatPublished in: Journal of medical genetics (2023)
variants in skeletal and brain development.