An immunological and cytogenetic investigation of tuberous sclerosis. 1977

R P Roos, and C Kirkpatrick, and N Gadoth, and W Berman, and J Rary

UI MeSH Term Description Entries
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014402 Tuberous Sclerosis Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease. Bourneville Disease,Epiloia,Phakomatosis, Bourneville,Adenoma Sebaceum,Bourneville Phakomatosis,Bourneville Syndrome,Bourneville's Disease,Bourneville's Syndrome,Bourneville-Pringle Disease,Bourneville-Pringle's Disease,Cerebral Sclerosis,Phacomatosis, Bourneville,Sclerosis Tuberosa,Tuberose Sclerosis,Tuberous Sclerosis Complex,Bourneville Phacomatosis,Bourneville Pringle Disease,Bourneville Pringle's Disease,Bourneville-Pringles Disease,Cerebral Scleroses,Disease, Bourneville-Pringle,Disease, Bourneville-Pringle's,Sclerosis, Cerebral,Sclerosis, Tuberose,Sclerosis, Tuberous,Syndrome, Bourneville,Syndrome, Bourneville's

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