Recurrent pneumothorax and intrapulmonary cavitary lesions in a male patient with vascular Ehlers-Danlos syndrome and a novel missense mutation in the COL3A1 gene: a case report

BACKGROUND: Vascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant hereditary collagen disease caused by a defect or deficiency in the pro-α1 chain of type III procollagen encoded by the COL3A1 gene. Patients with vEDS rarely present with multiple pneumothoraces. The clinical features o...

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Detalles Bibliográficos
Autores principales: Wan, Tingting, Ye, Jinyan, Wu, Peiliang, Cheng, Mengshi, Jiang, Baihong, Wang, Hailong, Li, Jianmin, Ma, Jun, Wang, Liangxing, Huang, Xiaoying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7257228/
https://www.ncbi.nlm.nih.gov/pubmed/32471395
http://dx.doi.org/10.1186/s12890-020-1164-4

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