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Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

Abstract Background Tuberous sclerosis complex (TSC) is a genetic disorder with an incidence of 1:6000 live births and associated with the development of benign tumors in several organs. It is also characterized by high rates of neurological and neuropsychiatric abnormalities, including epilepsy aff...

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Principais autores: Monika Słowińska, Sergiusz Jóźwiak, Angela Peron, Julita Borkowska, Dariusz Chmielewski, Krzysztof Sadowski, Elżbieta Jurkiewicz, Aglaia Vignoli, Francesca La Briola, Maria Paola Canevini, Katarzyna Kotulska-Jóźwiak
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2018-01-01
coleção:Orphanet Journal of Rare Diseases
Assuntos:
Tuberous sclerosis complex
TSC - early diagnosis
Infancy - cardiac tumors
Cardiac rhabdomyoma
Epilepsy
Preventative treatment
Acesso em linha:http://link.springer.com/article/10.1186/s13023-018-0764-z
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