Role of Genetic Factors in the Pathogenesis of Lung Disease

Three individuals with lymphangioleiomyomatosis (LAM) underwent evaluation for Tuberous Sclerosis Complex (TSC)-associated mucocutaneous and internal findings. Next-generation sequencing (NGS) of cutaneous findings was used to confirm clinical suspicion for mosaic TSC in individuals with LAM. Mosaic mutations in TSC2 were found in these three individuals.

• Type: Case Set
• Archiver: The database of Genotypes and Phenotypes (dbGaP)