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

Wan, TT; Ye, JY; Wu, PL; Cheng, MS; Jiang, BH; Wang, HL; Li, JM; Ma, J; Wang, LX; Huang, XY

Wang, LX; Huang, XY (corresponding author), Wenzhou Med Univ, Key Lab Heart & Lung, Affiliated Hosp 1, Div Pulm Med, Wenzhou 325000, Zhejiang, Peoples R China.

BMC PULMONARY MEDICINE, 2020; 20 (1):

Abstract

BackgroundVascular Ehlers-Danlos syndrome (vEDS) is a rare autosomal dominant hereditary collagen disease caused by a defect or deficiency in the pro-......

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