A novel RUNX2 splice site mutation in Chinese associated with cleidocranial dysplasia

A novel RUNX2 splice site mutation in Chinese associated with cleidocranial dysplasia

Pathogenic genes in most patients with cleidocranial dysplasia have been confirmed to be runt-related transcription factor 2 (RUNX2), which controls mutations in specific osteoblast transcription factors and affects skull ossification and suture adhesion. This study aimed to explore the role of RUNX...

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Bibliographic Details
Main Authors: Jing Wang, Qiuying Li, Hongyu Li, Xiu Liu, Ying Hu, Yuxing Bai, Kai Yang
Format: Article
Language:English
Published: Elsevier 2024-11-01
Series:Heliyon
Subjects:
Cleidocranial dysplasia
RUNX2
Splice-site mutation
DPCR
Chinese population
Online Access:http://www.sciencedirect.com/science/article/pii/S2405844024163086

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http://www.sciencedirect.com/science/article/pii/S2405844024163086

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