Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia

Conclusion
We confirm the previously suggested locus heterogeneity for CCD by identifying five pathogenic variants in CBFB in a cohort of eight individuals with clinical and radiographic features reminiscent of CCD.

Source: Journal of Medical Genetics - April 20, 2023 Category: Genetics & Stem Cells Authors: Beyltjens, T., Boudin, E., Revencu, N., Boeckx, N., Bertrand, M., Schütz, L., Haack, T. B., Weber, A., Biliouri, E., Vinksel, M., Zagozen, A., Peterlin, B., Pai, S., Telegrafi, A., Henderson, L. B., Ells, C., Turner, L., Wuyts, W., Van Hul, W., He Tags: Open access Novel disease loci Source Type: research