Tuberous sclerosis.
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. Recent studies suggest genetic heterogeneity, with at least two gene loci on chromosomes 9, 16, and perhaps 11.
Roach
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ES
Division of Pediatric Neurology, University of Texas Southwestern Medical School, Dallas, USA.
Delgado
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MR
D002454:Cell Differentiation; D002455:Cell Division; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics; D011230:Precancerous Conditions / Q000473:pathology*; D014402:Tuberous Sclerosis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology