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Genotype and Phenotype Landscape of 283 Japanese Patients with Tuberous Sclerosis Complex
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by multiple dysplastic organ lesions and neuropsychiatric symptoms, caused by loss of function mutations in either TSC1 or TSC2. Genotype and phenotype analyses are conducted worldwide, but there have been few large-sca...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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MDPI
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9569560/ https://www.ncbi.nlm.nih.gov/pubmed/36232477 http://dx.doi.org/10.3390/ijms231911175 |