Harvard Catalyst Profiles

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Tuberous Sclerosis

"Tuberous Sclerosis" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure, which enables searching at various levels of specificity.

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.


This graph shows the total number of publications written about "Tuberous Sclerosis" by people in Harvard Catalyst Profiles by year, and whether "Tuberous Sclerosis" was a major or minor topic of these publication.
Bar chart showing 518 publications over 31 distinct years, with a maximum of 30 publications in 2015
To see the data from this visualization as text, click here.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.