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Article

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia.

Genes & genomics - 1 Jun 2022

Gong Lei, Odilov Bekzod, Han Feng, Liu Fuqiang, Sun Yujing, Zhang Ningxin, Zuo Xiaolin, Yang Jiaojiao, Wang Shouyu, Hou Xinguo, Ren Jianmin

Abstract excerpt

BACKGROUND: Cleidocranial dysplasia (CCD) is a rare genetic disorder affecting bone and cartilage development. Clinical features of CCD comprise short stature, delayed ossification of craniofacial structures with numerous Wormian bones, underdeveloped or aplastic clavicles and multiple dental anomalies. Several studies have revealed that CCD development is strongly linked with different mutations in runt-related...

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PMID: 35235174
DOI: 10.1007/s13258-022-01229-w
PMCID: PMC9120113

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