Publications:

Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation.

Global Medical Genetics

Kalayci Yigin, Aysel A; Duz, Mehmet Bugrahan MB; Seven, Mehmet M

Publication Date: 2022-03

Variant appearance in text: RUNX2: 407T>C

PubMed Link: 35169780

Variant Present in the following documents:

• 10-1055-s-0041-1736482.pdf

View BVdb publication page

Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review.

Medicine

Ma, Dan D; Wang, Xuxia X; Guo, Jun J; Zhang, Jun J; Cai, Tao T

Publication Date: 2018-08

Variant appearance in text: RUNX2: 407T>C

PubMed Link: 30095610

Variant Present in the following documents:

View BVdb publication page

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: RUNX2: L136P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails.

Bmc Medical Genetics

Tang, Shaohua S; Xu, Qiyu Q; Xu, Xueqin X; Du, Jicheng J; Yang, Xuemei X; Jiang, Yusheng Y; Wang, Xiaoqin X; Speck, Nancy N; Huang, Taosheng T

Publication Date: 2007-12-31

Variant appearance in text: RUNX2: L136P

PubMed Link: 18166138

Variant Present in the following documents:

• Main text
• 1471-2350-8-82.pdf

View BVdb publication page