A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia-Reference-Cited by-同舟云学术

A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia

Published:2017-08-23 Issue:1 Volume:119 Page:1152-1162
ISSN:0730-2312
Container-title:Journal of Cellular Biochemistry
language:en
Short-container-title:J. Cell. Biochem.

Author:

Jung Yu‐Jin¹,Bae Han‐Sol²,Ryoo Hyun‐Mo²^ORCID,Baek Seung‐Hak¹

Affiliation:

1. Department of OrthodonticsSchool of Dentistry and Dental Research InstituteSeoul National UniversitySeoulRepublic of Korea

2. Department of Molecular GeneticsSchool of Dentistry and Dental Research InstituteBK21 ProgramSeoul National UniversitySeoulRepublic of Korea

Funder

Seoul National University

National Research Foundation of Korea

Publisher

Wiley

Subject

Cell Biology,Molecular Biology,Biochemistry

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jcb.26283

Reference34 articles.

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2. Four novelRUNX2 mutations including a splice donor site result in the cleidocranial dysplasia phenotype

3. Novel mutation of cleidocranial dysplasia‐related frameshift runt‐related transcription factor 2 in a sporadic chinese case;Qin XY;Chin Med J (Engl),2017

4. A Runx2 threshold for the cleidocranial dysplasia phenotype

5. Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia

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