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Distinct clinical characteristics of Tuberous Sclerosis Complex patients with no mutation identified

Tuberous Sclerosis Complex (TSC) is a multi-system disorder that is highly variable in its clinical presentation. Current molecular diagnostic methods permit identification of mutations in either TSC1 or TSC2 in 75–85% of TSC patients. Here we examine the clinical characteristics of those TSC patien...

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Detalhes bibliográficos
Main Authors: Camposano, Susana, Greenberg, Erica, Kwiatkowski, David, Thiele, Elizabeth A.
Formato: Artigo
Idioma:Inglês
Publicado em: 2008
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2650014/
https://ncbi.nlm.nih.gov/pubmed/19133941
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1469-1809.2008.00496.x
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