Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.
Beyltjens T, Boudin E, Revencu N, Boeckx N, Bertrand M, Schütz L, Haack TB, Weber A, Biliouri E, Vinkšel M, Zagožen A, Peterlin B, Pai S, Telegrafi A, Henderson LB, Ells C, Turner L, Wuyts W, Van Hul W, Hendrickx G, Mortier GR.
Beyltjens T, et al. Among authors: wuyts w.
J Med Genet. 2023 May;60(5):498-504. doi: 10.1136/jmg-2022-108739. Epub 2022 Oct 14.
J Med Genet. 2023.
PMID: 36241386
Free PMC article.