ReviewNeuromolecular medicine2015
TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.
Review in Neuromolecular medicine, 2015. 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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
2 citing papers in PubMed, 3 citations in OpenAlex.
- Clinical and genetic analysis of tuberous sclerosis complex-associated renal angiomyolipoma in Chinese pedigrees.Oncology letters · 2017Article
- Familial genetic tuberous sclerosis complex associated with bilateral giant renal angiomyolipoma: A case report.Oncology letters · 2017Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Tuberous sclerosis complex is a rare autosomal dominant disorder caused by mutations in either of TSC1 and TSC2 genes. Tuberous sclerosis complex presents diverse clinical characteristics, and either of TSC1 and TSC2 genes shows a wide range of mutations in their coding regions. However, the correlation between genotype and phenotype is yet unknown. We describe the clinical characteristics of a Chinese family with TSC1 gene mutation and present a literature review of Chinese patients with tuberous sclerosis complex gene mutation reported since 2004. This is the first report of TSC1 R509X mutation in a Chinese family, which might deepen our insight into the clinical and molecular pathogenesis of tuberous sclerosis complex.
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