Condition: Lymphangioleiomyomatosis


rs28934872 in TSC2 gene and Lymphangioleiomyomatosis PMID 10823953 2000 Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis.

PMID 11829138 2002 Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.