Two Novel C-Terminus RUNX2 Mutations in Two Cleidocranial Dysplasia (CCD) Patients Impairing p53 Expression

Two Novel C-Terminus RUNX2 Mutations in Two Cleidocranial Dysplasia (CCD) Patients Impairing p53 Expression

Cleidocranial dysplasia (CCD), a dominantly inherited skeletal disease, is characterized by a variable phenotype ranging from dental alterations to severe skeletal defects. Either de novo or inherited mutations in the <i>RUNX2</i> gene have been identified in most CCD patients. Transcrip...

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Bibliographic Details
Main Authors: Luca Dalle Carbonare, Franco Antoniazzi, Alberto Gandini, Silvia Orsi, Jessica Bertacco, Veronica Li Vigni, Arianna Minoia, Francesca Griggio, Massimiliano Perduca, Monica Mottes, Maria Teresa Valenti
Format: Article
Language:English
Published: MDPI AG 2021-09-01
Series:International Journal of Molecular Sciences
Subjects:
cleidocranial dysplasia
bone
osteogenic differentiation
RUNX2
Online Access:https://www.mdpi.com/1422-0067/22/19/10336

Internet

https://www.mdpi.com/1422-0067/22/19/10336

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