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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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Publicat a:Appl Clin Genet
Autors principals: Caban, Carolina, Khan, Nubaira, Hasbani, Daphne M, Crino, Peter B
Format: Artigo
Idioma:Inglês
Publicat: Dove Medical Press 2016
Matèries:
Accés en línia: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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