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- Title
A novel COL3A1 variant associated with vascular Ehlers–Danlos syndrome in a patient presents as recurrent pneumothorax with cavities.
- Authors
Guo, T; Liu, Y; Lvqiu, S; Lei, C; He, W L; Jiang, Y; Yang, D; Wang, R; Yang, B; Lu, C; Xu, Y; Ding, S; Wang, L; Luo, H; Peng, H
- Abstract
Chest X-ray suggested that the patient had pneumothorax again, and chest CT results showed cavities and solid nodules in both lungs in addition to the pneumothorax (Figure 1G and H). A novel COL3A1 variant associated with vascular Ehlers-Danlos syndrome in a patient presents as recurrent pneumothorax with cavities Learning points for clinicians This article emphasizes the relationship between the I COL3A1 i gene and vascular Ehlers-Danlos syndrome (EDS), in a 14-year-old patient who was hospitalized due to recurrent chest pain.
- Subjects
EHLERS-Danlos syndrome; PNEUMOTHORAX; MEDICAL personnel; MAGNETIC resonance angiography; COMPUTED tomography
- Publication
QJM: An International Journal of Medicine, 2023, Vol 116, Issue 8, p691
- ISSN
1460-2725
- Publication type
Article
- DOI
10.1093/qjmed/hcad059