A Novel 90-kbp Deletion of <i>RUNX2</i> Associated with Cleidocranial Dysplasia
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia caused by runt-related transcription factor 2 (<i>RUNX2</i>) mutations. In addition to the regular missense, small or large fragment deletions are the common mutation types of <i>RUNX2</i>. This stu...
| Main Authors: | , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2022-06-01
|
| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/13/7/1128 |