Identification of RUNX2 variants associated with cleidocranial dysplasia

Identification of RUNX2 variants associated with cleidocranial dysplasia

Abstract Background Cleidocranial dysplasia (CCD) is a rare autosomal dominant disorder mainly characterized by hypoplastic or absent clavicles, delayed closure of the fontanelles, multiple dental abnormalities, and short stature. Runt-related transcription factor 2 (RUNX2) gene variants can cause C...

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Bibliographic Details
Main Authors: Xueren Gao, Kunxia Li, Yanjie Fan, Yu Sun, Xiaomei Luo, Lili Wang, Huili Liu, Zhuwen Gong, Jianguo Wang, Yu Wang, Xuefan Gu, Yongguo Yu
Format: Article
Language:English
Published: BMC 2019-09-01
Series:Hereditas
Subjects:
RUNX2
Pathogenic variant
Cleidocranial dysplasia
Targeted next-generation sequencing
Online Access:http://link.springer.com/article/10.1186/s41065-019-0107-7

Internet

http://link.springer.com/article/10.1186/s41065-019-0107-7

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