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...

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Detalles Bibliográficos
Autores principales: Togi, Sumihito, Ura, Hiroki, Hatanaka, Hisayo, Niida, Yo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9569560/
https://www.ncbi.nlm.nih.gov/pubmed/36232477
http://dx.doi.org/10.3390/ijms231911175

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