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PCN48 Costs of Tuberous Sclerosis Complex (TSC) Neurological and Developmental Manifestations in Brazil

✍ Scribed by Mussolino, F.; Saba da Silva, N.; Valentim, J.

Book ID: 122209370
Publisher: John Wiley and Sons
Year: 2011
Tongue: English
Weight: 60 KB
Volume: 14
Category: Article
ISSN: 1098-3015
DOI: 10.1016/j.jval.2011.08.1149

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Important symptoms of tuberous sclerosis complex (TSC), an autosomal dominant disor der, are hamartomata in several organs, mental retardation and epilepsy. Either one of two loci can be involved (TSC1 and TSC2), of which the TSC2 gene has been cloned. To date, only 35 mutations in the TSC2 gene hav