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The Lancet, 2007 Tuberous sclerosis is a genetic multisystem disorder characterised by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. The affected genes are TSC1 and TSC2, encoding hamartin and tuberin respectively.
CURATOLO, PAOLO +2 more
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Pediatric Neurology, 2013 BackgroundTuberous sclerosis complex is highly variable in clinical presentation and findings. Disease manifestations continue to develop over the lifetime of an affected individual.
Steven L Roberds +2 more
exaly +2 more sources
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Survey of Ophthalmology, 1985
Tuberous sclerosis is a multisystem disorder of autosomal dominant inheritance that has important eye signs which contribute substantially to the diagnosis. The disease has been recognized for over 100 years, classically by the occurrence of the triad of mental retardation, epilepsy and adenoma sebaceum of the face.
R, Williams, D, Taylor
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Tuberous sclerosis is a multisystem disorder of autosomal dominant inheritance that has important eye signs which contribute substantially to the diagnosis. The disease has been recognized for over 100 years, classically by the occurrence of the triad of mental retardation, epilepsy and adenoma sebaceum of the face.
R, Williams, D, Taylor
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Dermatologic Clinics, 1995
Tuberous sclerosis complex is a disorder of cellular differentiation and proliferation that is inherited as an autosomal dominant trait with variable penetrance and a high spontaneous mutation rate. Lesions occur in the brain, skin, kidneys, heart, and other organs.
E S, Roach, M R, Delgado
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Tuberous sclerosis complex is a disorder of cellular differentiation and proliferation that is inherited as an autosomal dominant trait with variable penetrance and a high spontaneous mutation rate. Lesions occur in the brain, skin, kidneys, heart, and other organs.
E S, Roach, M R, Delgado
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Pediatric Neurology, 2013 BackgroundTuberous sclerosis complex is a genetic disorder affecting every organ system, but disease manifestations vary significantly among affected individuals.
Steven L Roberds +2 more
exaly +2 more sources
2013
Tuberous sclerosis complex (TSC) is a genetic multisystem disorder characterized by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. The affected genes are TSC1 and TSC2, encoding hamartin and tuberin respectively.
P, Curatolo, B L, Maria
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Tuberous sclerosis complex (TSC) is a genetic multisystem disorder characterized by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung, and liver. The affected genes are TSC1 and TSC2, encoding hamartin and tuberin respectively.
P, Curatolo, B L, Maria
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Developmental Medicine & Child Neurology, 1966
SUMMARYThirty‐four cases of tuberous sclerosis are discussed and the pertinent literature is reviewed. As noted in previously reported cases the disease often afflicts the heart, kidneys, retina and bones in addition to the brain.The incidence and pattern of inheritance in tuberous sclerosis has not been completely elucidated.
G W, Paulson, C B, Lyle
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SUMMARYThirty‐four cases of tuberous sclerosis are discussed and the pertinent literature is reviewed. As noted in previously reported cases the disease often afflicts the heart, kidneys, retina and bones in addition to the brain.The incidence and pattern of inheritance in tuberous sclerosis has not been completely elucidated.
G W, Paulson, C B, Lyle
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Neurologic Clinics, 1987
Tuberous sclerosis is a multisystem disorder characterized by changes primarily involving the skin, eye, and central nervous system. Although the disease often produces mental retardation and seizures, this is not universal, and some patients with tuberous sclerosis lead a relatively normal life.
R, Hanno, R, Beck
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Tuberous sclerosis is a multisystem disorder characterized by changes primarily involving the skin, eye, and central nervous system. Although the disease often produces mental retardation and seizures, this is not universal, and some patients with tuberous sclerosis lead a relatively normal life.
R, Hanno, R, Beck
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Neurosurgery, 1984
Abstract The clinical. radiological, and pathological characteristics of tuberous sclerosis are reviewed. Neurosurgical intervention in the syndrome is discussed in light of two recently treated cases and a literature review.
M G, Nagib +3 more
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Abstract The clinical. radiological, and pathological characteristics of tuberous sclerosis are reviewed. Neurosurgical intervention in the syndrome is discussed in light of two recently treated cases and a literature review.
M G, Nagib +3 more
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2015
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can affect the brain, skin, eyes, kidneys, heart, and lungs. TSC alters cellular proliferation and differentiation, resulting in hamartomas of various organs, tumor formation, and altered neuronal migration. The phenotype is highly variable.
Monica P, Islam, E Steve, Roach
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Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can affect the brain, skin, eyes, kidneys, heart, and lungs. TSC alters cellular proliferation and differentiation, resulting in hamartomas of various organs, tumor formation, and altered neuronal migration. The phenotype is highly variable.
Monica P, Islam, E Steve, Roach
openaire +2 more sources