A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia

BACKGROUND: Haploinsufficiency of the runt-related transcription factor 2 (RUNX2) gene is known to cause cleidocranial dysplasia (CCD). Here, we investigated a complex, heterozygous RUNX2 gene mutation in a Chinese family with CCD and the pathogenesis associated with the variations. METHODS: Genomic...

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Bibliografiske detaljer
Udgivet i:BMC Med Genet
Main Authors: Xu, Wen’an, Chen, Qiuyue, Liu, Cuixian, Chen, Jiajing, Xiong, Fu, Wu, Buling
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2017
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5297198/
https://ncbi.nlm.nih.gov/pubmed/28173761
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0375-x
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