Here, we describe 11 patients presenting with PH and a spectrum of connective tissue abnormalities characterized by combinations of vascular, cardiac, cutaneous and joint-related symptoms and signs due to mutations in FLNA. The responsible mutations in FLNA constitute null alleles in female patients, ...
Interstitial Lung Disease Unit Royal Brompton and Harefield NHS Foundation Trust London UnitedThorax: The Journal of the British Thoracic SocietyMcbrien C, Penketh A, Johnson H, et al. Recurrent pneumotho- races in a 17-year-old man with mixed connective tissue disease [J]. Thorax, 2014, 69...