ArticleUrology case reports2020
Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report.
Article in Urology case reports, 2020. 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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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
2 citing papers in PubMed, 3 citations in OpenAlex.
- Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome in a young patient presenting with a large uterus: A case report and review of the literature.Case reports in women's health · 2023Article
- Germline Whole-Gene Deletion of FH Diagnosed from Tumor Profiling.International journal of molecular sciences · 2021Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
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Abstract
Hereditary leiomyomatosis and renal cell cancer is a rare, inherited disease caused by mutations in the fumarate hydratase gene. It is characterized by cutaneous leiomyomas, uterine leiomyomas, and/or renal cell cancer. We present the case of a 42-year-old woman with a heterozygous missense mutation (p.M195T) in the fumarate hydratase gene. Although the patient did not have cutaneous leiomyoma and she had no family history of hereditary leiomyomatosis and renal cell cancer, the presence of early onset symptomatic uterine leiomyoma and type 2 papillary renal cell cancer confirmed the diagnosis of hereditary leiomyomatosis and renal cell cancer.
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