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Novel Mutation of the RUNX2 Gene in Patients with Cleidocranial Dysplasia
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder linked to mutations in the Runt-related transcription factor 2, encoded by the RUNX2 gene, which is essential for osteoblast differentiation and skeletal development. Here, we describe a novel nonsense mutation (c.532C>T; p.Q178X) in...
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| Publicado no: | Mol Syndromol |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5582518/ https://ncbi.nlm.nih.gov/pubmed/28878609 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000477307 |
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