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 RUNX2 gene have been identified in most CCD patients. Transcription factor RUNX2,...

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Detalles Bibliográficos
Autores principales: Dalle Carbonare, Luca, Antoniazzi, Franco, Gandini, Alberto, Orsi, Silvia, Bertacco, Jessica, Li Vigni, Veronica, Minoia, Arianna, Griggio, Francesca, Perduca, Massimiliano, Mottes, Monica, Valenti, Maria Teresa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8508986/
https://www.ncbi.nlm.nih.gov/pubmed/34638677
http://dx.doi.org/10.3390/ijms221910336

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8508986/
https://www.ncbi.nlm.nih.gov/pubmed/34638677
http://dx.doi.org/10.3390/ijms221910336

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