Dental implications in Hajdu-Cheney syndrome: A novel case report and review of the literature.
J W LeeY J KimJ KangT J ShinH-K HyunY-J KimS-H LeeZ H LeeJung-Wook KimPublished in: Oral diseases (2018)
In this study, we identified a novel nonsense mutation in the last exon of the NOTCH2 gene causing Hajdu-Cheney syndrome. We described the genotype and phenotype correlation and the related dental complications. These results will advance the understanding of the NOTCH2 signaling in periodontitis and root resorption.