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...

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Detalles Bibliográficos
Autores principales: Chiu, Wei-Ching, Chen, Shu-Huey, Lo, Mei-Chen, Kuo, Yung-Ting
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
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

Internet

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

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