Cleidocranial dysplasia is an autosomal dominant skeletal dysplasia characterized by hypoplastic clavicles, delayed closure of the cranial sutures, and dental abnormalities resulted from defective intramembranous ossification. Mutations in RUNX2, which is involved in osteoblast differentiation, are the causes of the disease.
Beyltjens T, Boudin E, Revencu N, Boeckx N, Bertrand M, Schutz L, Haack TB, Weber A, Biliouri E, Vinksel M, Zagozen A, Peterlin B, Pai S, Telegrafi A, Henderson LB, Ells C, Turner L, Wuyts W, Van Hul W, Hendrickx G, Mortier GR
タイトル
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.
