Role of Genetic Factors in the Pathogenesis of Lung Disease
收藏NIAID Data Ecosystem2026-04-30 收录
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https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs003108.v1.p1
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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.]]>
Subjects had a diagnosis of LAM and a few other features of TSC.]]>
创建时间：
2022-11-03
