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A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia
BACKGROUND: Haploinsufficiency of the runt-related transcription factor 2 (RUNX2) gene is known to cause cleidocranial dysplasia (CCD). Here, we investigated a complex, heterozygous RUNX2 gene mutation in a Chinese family with CCD and the pathogenesis associated with the variations. METHODS: Genomic...
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| Izdano u: | BMC Med Genet |
|---|---|
| Glavni autori: | , , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
BioMed Central
2017
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5297198/ https://ncbi.nlm.nih.gov/pubmed/28173761 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0375-x |
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