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Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2
Cleidocranial dysplasia (CCD) is a rare genetic disorder of bone, characterised by hypoplastic/aplastic clavicles, delayed closure of fontanelles and sutures of the cranium and dental abnormalities. We describe a novel frameshift pathogenic variation—c.470dupT (p.M157Ifs*4, NM_001024630) in the runt...
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| Publicado no: | BMJ Case Rep |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4885364/ https://ncbi.nlm.nih.gov/pubmed/27177937 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2016-215162 |
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