ArticleCase reports in pulmonology2018
A Novel Mutation in TSC2 Gene: A 34-Year-Old Female with Pulmonary Lymphangioleiomyomatosis with Concomitant Hepatic Lesions.
Article in Case reports in pulmonology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 2 citations in OpenAlex.
- Delayed TSC Diagnosis Presenting as End-Stage Renal Disease With Renal and Hepatic Angiomyolipoma: Case Report and Review.Clinical case reports · 2025Article
- Two novel TSC2 mutations in renal epithelioid angiomyolipoma sensitive to everolimus.Cancer biology & therapy · 2020Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
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Abstract
Tuberous sclerosis complex (TSC) is an autosomal dominant disease resulting from mutation(s) in TSC1 or TSC2 genes. TSC is associated with the formation of hamartomas in the brain, heart, eyes, skin, kidneys, and lymphangioleiomyomatosis (LAM) of the lungs. LAM is almost restricted to women in reproductive age. Different mutations in TSC1 and TSC2 genes have been reported in the literature. Here, we present a female patient with TSC-LAM with a novel mutation in TSC2 gene. The patient also had multiple hepatic angiomyolipomas, which is a relatively less-reported manifestation of the disease. The impact of this mutation on the pattern of disease presentation and response to treatment is not clear yet.
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Registered trials
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