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.