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Classic Ehlers–Dalnos syndrome presenting as atypical chronic haematoma: a case report with novel frameshift mutation in COL5A1
BACKGROUND: Ehlers–Danlos syndrome (EDS) is a group of inherited connective tissue disorders characterized by skin hyperextensibility, joint hypermobility and soft tissue vulnerable to blunt injury. Early recognition and diagnosis are crucial to patients to provide appropriate treatment, as well as...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7590603/ https://www.ncbi.nlm.nih.gov/pubmed/33109150 http://dx.doi.org/10.1186/s12887-020-02386-1 |