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Article

TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex

5 May 2009

Abstract excerpt

BACKGROUND: Lymphangioleiomyomatosis (LAM) is a prominent finding in the setting of tuberous sclerosis complex (TSC). OBJECTIVE: The present study was designed to compare cystic lung changes consistent with LAM in patients with a TSC1 disease-causing mutation, TSC2 disease-causing mutation, or no mutation identified (NMI). METHODS AND RESULTS: We conducted a retrospective review of the chest computed tomography...

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PMID: 19419980
DOI: 10.1136/jmg.2008.065342

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