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A novel TSC2 c.4511 T > C missense variant associated with tuberous sclerosis complex
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal-dominant hereditary disease characterized by hamartomas of multiple organ systems, including the brain, skin, heart, kidney and lung. Genetically, TSC is caused by pathogenic variants in the TSC1 or TSC2 gene. CASE PRESENTATION: We reporte...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7488555/ https://www.ncbi.nlm.nih.gov/pubmed/32917147 http://dx.doi.org/10.1186/s12881-020-01120-z |