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A Novel 90-kbp Deletion of RUNX2 Associated with Cleidocranial Dysplasia
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal dysplasia caused by runt-related transcription factor 2 (RUNX2) mutations. In addition to the regular missense, small or large fragment deletions are the common mutation types of RUNX2. This study aimed to find the rules of deletion...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9322484/ https://www.ncbi.nlm.nih.gov/pubmed/35885911 http://dx.doi.org/10.3390/genes13071128 |