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von Hippel-Lindau Disease...Hippel-Lindau protein gives the complex its target specificity, recruiting specific proteins to the complex...such as hypopigmented macules (ash-leaf ...
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Tuberous Sclerosis...tuberous sclerosis or sporadic lymphangioleiomyomatosis) in whom target angiolipomas were reduced by at least half...More obvious lesions such as ...
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Dermatologic Manifestations of Tuberous Sclerosis...tuberin heterodimerize and inhibit mTOR, the mammalian target of rapamycin.[3] Interestingly, hamartin and tuberin...patient with tuberous sclerosis. ...
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Pathology of Neurocutaneous Syndromes...cutaneous signs include facial angiofibromas, subungual fibromas, Shagreen patches, and hypomelanotic macules.[1] Because of its...signaling pathway ( ...
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Genetics of Tuberous Sclerosis...facial angiofibromas, hypomelanotic spots known as Fitzpatrick patches (ash-leaf spots), cardiac rhabdomyomas, and renal...ash-leaf spots, confetti ...
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Pediatric First Seizure...precipitate seizures and can be directly treatable targets. In children who are receiving intravenous (IV...wine stain, facial angiofibromas, ...