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Genotype and Phenotype Analysis of Chinese Children With Tuberous Sclerosis Complex: A Pediatric Cohort Study

Tuberous sclerosis complex (TSC) is a genetic condition characterized by the occurrence of hamartomatous wounds stemming from the dysfunction of the mammalian target of rapamycin (mTOR) pathway. We investigated the clinical phenotypes and genetic variants in 243 unrelated probands and their families...

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Detalles Bibliográficos
Autores principales:	Ding, Yifeng, Wang, Ji, Zhou, Shuizhen, Zhou, Yuanfeng, Zhang, Linmei, Yu, Lifei, Wang, Yi
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2020
Materias:	Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7076134/ https://www.ncbi.nlm.nih.gov/pubmed/32211034 http://dx.doi.org/10.3389/fgene.2020.00204

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