Loading...
Functional Analysis of RUNX2 Mutations in Japanese Patients with Cleidocranial Dysplasia Demonstrates Novel Genotype-Phenotype Correlations
Cleidocranial dysplasia (CCD) is an autosomal dominant heritable skeletal disease caused by heterozygous mutations in the osteoblast-specific transcription factor RUNX2. We have performed mutational analysis of RUNX2 on 24 unrelated patients with CCD. In 17 patients, 16 distinct mutations were detec...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Artigo |
| Language: | Inglês |
| Published: |
The American Society of Human Genetics
2002
|
| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC378531/ https://ncbi.nlm.nih.gov/pubmed/12196916 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|