Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia
涉及 CBFB 的杂合致病变异会导致一种类似于锁骨颅骨发育不良的新型骨骼疾病。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2022-108739
Beyltjens, Tessi; Boudin, Eveline; Revencu, Nicole; Boeckx, Nele; Bertrand, Miriam; Schütz, Leon; Haack, Tobias B; Weber, Axel; Biliouri, Eleni; Vinkšel, Mateja; Zagožen, Anja; Peterlin, Borut; Pai, Shashidhar; Telegrafi, Aida; Henderson, Lindsay B; Ells, Courtney; Turner, Lesley; Wuyts, Wim; Van Hul, Wim; Hendrickx, Gretl; Mortier, Geert R