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Genetics of tuberous sclerosis complex: implications for clinical practice

Tuberous sclerosis complex (TSC) is a multisystem disorder that results from heterozygous mutations in either TSC1 or TSC2. The primary organ systems that are affected include the brain, skin, lung, kidney, and heart, all with variable frequency, penetrance, and severity. Neurological features inclu...

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Detalhes bibliográficos
Publicado no:Appl Clin Genet
Main Authors: Caban, Carolina, Khan, Nubaira, Hasbani, Daphne M, Crino, Peter B
Formato: Artigo
Idioma:Inglês
Publicado em: Dove Medical Press 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5189696/
https://ncbi.nlm.nih.gov/pubmed/28053551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S90262
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