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Tuberous sclerosis with negative genetic testing and multiple cerebral cavernomas: A new association (Case report)

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder with multisystemic involvement usually resulting from mutations in the tuberous sclerosis 1 (TSC1) or TSC2 genes. However, 10 to 25% of patients do not exhibit these mutations. Cerebral cavernous malformations (CCMs) are capillary-ve...

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Detalles Bibliográficos
Autores principales: Arbune, Anca Adriana, Toron, Basel Robert, Lupescu, Ioan Cristian, Lupescu, Ioana Gabriela, Tatu, Alin Laurentiu, Dulamea, Adriana Octaviana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8406763/
https://www.ncbi.nlm.nih.gov/pubmed/34475973
http://dx.doi.org/10.3892/etm.2021.10617