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Genotype-phenotype correlation of patients with tuberous sclerosis complex-associated renal angiomyolipoma: A descriptive study

Human Pathology Jul 25, 2018

Li S, et al. - Given that TSC2 gene mutation was repeatedly reported correlated with a more severe phenotype in patients of tuberous sclerosis complex (TSC), the researchers intended to investigate whether there was such a relationship in patients with TSC-associated renal angiomyolipoma (TSC-RAML). For this investigation, TSC1/TSC2 gene mutation was screened by high throughput sequencing in 25 TSC-RAML patients from two medical centers. Data reported that TSC-RAML was TSC2 mutation dominant and mainly nonsense and a frameshift mutation. In patients with TSC-RAML, no definite genotype-phenotype relationship exists.
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