Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.
Tessi BeyltjensEveline BoudinNicole RevencuNele BoeckxMiriam BertrandLeon SchützTobias B HaackAxel WeberEleni BiliouriMateja VinkšelAnja ZagoženBorut PeterlinShashidhar PaiAida TelegrafiLindsay B HendersonCourtney EllsLesley TurnerWim WuytsWim Van HulGretl HendrickxGeert R MortierPublished in: Journal of medical genetics (2022)
in a cohort of eight individuals with clinical and radiographic features reminiscent of CCD.