Identification of RUNX2 variants associated with cleidocranial dysplasia.

Xueren GaoKunxia LiYanjie FanYu SunXiaomei LuoLili WangHuili LiuZhuwen GongJianguo WangYu WangXuefan GuYong-Guo Yu

Published in: Hereditas (2019)

The present study expands the pathogenic variant spectrum of RUNX2 gene, which will contribute to the diagnosis of CCD and better genetic counseling in the future.

Keyphrases

copy number
transcription factor
genome wide
current status
dna methylation
gene expression
genome wide identification