Matches in SemOpenAlex for { <https://semopenalex.org/work/W4210242661> ?p ?o ?g. }
- W4210242661 abstract "Abstract Tuberous sclerosis (or tuberous sclerosis complex) is a multisystem disorder characterized by tumor‐like lesions (hamartomas) in the brain, skin, and other organs and is often associated with seizures and mental retardation. The major diagnostic features are facial angiofibromas, forehead plaques, ungual fibromas, hypomelanotic macules, shagreen patches, retinal astrocytic hamartomas, cortical tubers, subependymal nodules, subependymal giant cell astrocytomas, cardiac rhabdomyomas, renal angiomyolipomas, and pulmonary lymphangiomyomatosis. The disorder shows autosomal dominant inheritance with approximately two‐thirds of affected children being born to unaffected parents as the result of a new dominant mutation. The condition is caused by mutations in either the TSC1 gene (chromosome 9q34) or the TSC2 gene (chromosome 16p13.3). The management of tuberous sclerosis presents many challenges because of the range of organs involved, the different ages at which the manifestations can appear, and the wide variation in severity." @default.
- W4210242661 created "2022-02-08" @default.
- W4210242661 creator A5069076773 @default.
- W4210242661 date "2005-01-14" @default.
- W4210242661 modified "2023-10-13" @default.
- W4210242661 title "Tuberous Sclerosis" @default.
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- W4210242661 cites W1983115702 @default.
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- W4210242661 cites W1986938981 @default.
- W4210242661 cites W1993796446 @default.
- W4210242661 cites W1995812311 @default.
- W4210242661 cites W1996556344 @default.
- W4210242661 cites W1999963260 @default.
- W4210242661 cites W2001411647 @default.
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- W4210242661 cites W2038028072 @default.
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- W4210242661 cites W2078919867 @default.
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- W4210242661 doi "https://doi.org/10.1002/0471695998.mgs048" @default.
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