Articles with "mosaicism tsc2" as a keyword



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Generalised mosaicism for TSC2 mutation in isolated lymphangioleiomyomatosis

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Published in 2019 at "European Respiratory Journal"

DOI: 10.1183/13993003.00938-2019

Abstract: Lymphangioleiomyomatosis (LAM) is a rare, slowly progressive pulmonary disease causing cystic lung destruction and respiratory failure. It affects predominantly premenopausal women, and rarely men. It can occur as a sporadic condition (sporadic LAM) or in… read more here.

Keywords: lymphangioleiomyomatosis; generalised mosaicism; lam; tsc2 mutation ... See more keywords