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

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...

Source: BMC Pulmonary Medicine - May 29, 2020 Category: Respiratory Medicine Authors: Tingting Wan, Jinyan Ye, Peiliang Wu, Mengshi Cheng, Baihong Jiang, Hailong Wang, Jianmin Li, Jun Ma, Liangxing Wang and Xiaoying Huang Tags: Case report Source Type: research