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TuberousSclerosis-Rayerjpg
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Earliest illustration, from Rayer 's atlas of skin diseases, 1835
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13433
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191100
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000787
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neuro
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386
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D014402
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The name, composed of the Latin ''tuber'' (swelling) and the Greek ''skleros'' (hard), refers to the
Pathological finding of thick, firm and pale
Gyri , called "tubers", in the brains of patients
Postmortem . These tubers were first described by
Désiré-Magloire Bourneville in 1880; the cortical manifestations may sometimes still be known by the
Eponym Bourneville's disease.
The physical manifestations of tuberous sclerosis are due to the formation of
Hamartia (malformed tissue such as the cortical tubers),
Hamartoma s (benign growths such as facial angiofibroma and subependymal nodules) and, very rarely, cancerous
Hamartoblastoma s. The effect of these on the brain leads to neurological symptoms such as
Seizure s,
Developmental Delay and behavioral problems.
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Ridler K, ''et al''
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Standardized whole brain mapping of tubers and subependymal nodules in tuberous sclerosis complex
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Journal of Child Neurology
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2004
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19
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9
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658-665
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Henske EP
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Metastasis of benign tumor cells in tuberous sclerosis complex
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Genes, Chromosomes & Cancer
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2003
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38
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4
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376-381
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Hamartin
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12362
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TSC1
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7248
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605284
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NM_000368
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Q92574
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9
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q
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34
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Tuberin
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12363
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TSC2
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7249
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191092
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NM_000548
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P49815
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16
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p
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133
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