...TSC1 or TSC2 genes are the underlying cause of both forms. Over the past decade, research and clinical practice in manag...
...TSC1 or TSC2, affecting approximately 1 in 6,000 live births. Diagnosis can be established genetically or clinically bas...
...TSC1/TSC2 variants were identified in 13 patients, including seven known or likely pathogenic alterations. Five patients...
...TSC1 (P = .004), and the same was observed on conventional MRI (P = .001). On 7T MRI, subjects with TSC1 also had signif...
...TSC1 is an important negative regulator of mTOR signaling, and Tsc1 conditional knockout mice suffer from modest hearing...
...TSC1/2 in RCC. Primary and secondary pseudo-stability/progression occur in a non-trivial proportion of patients across c...
...TSC1/2), leading to hamartomas in multiple organs. Renal angiomyolipomas are often asymptomatic but can cause mass effec...
...TSC1, SETD2 and TP53 mutations, one had an MTOR mutation, one had a TSC2 mutation, and one had an SETD2 mutation. The fi...
...TSC1/2/mTOR/RICTOR mutations or TFE3 translocations were detected in 16 of 31 (52%) cases by NGS. Recurrent ATRX alterat...
...TSC1 or TSC2 gene. Multiple genetic, epigenetic, and environmental factors can affect the phenotypical outcomes of TSC i...
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