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

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 anomal...

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Detalles Bibliográficos
Autores principales: Gong, Lei, Odilov, Bekzod, Han, Feng, Liu, Fuqiang, Sun, Yujing, Zhang, Ningxin, Zuo, Xiaolin, Yang, Jiaojiao, Wang, Shouyu, Hou, Xinguo, Ren, Jianmin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Nature Singapore 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120113/
https://www.ncbi.nlm.nih.gov/pubmed/35235174
http://dx.doi.org/10.1007/s13258-022-01229-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120113/
https://www.ncbi.nlm.nih.gov/pubmed/35235174
http://dx.doi.org/10.1007/s13258-022-01229-w

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