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

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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Bibliographic Details
Main Authors: Yifeng Ding, Ji Wang, Shuizhen Zhou, Yuanfeng Zhou, Linmei Zhang, Lifei Yu, Yi Wang
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-03-01
Series:Frontiers in Genetics
Subjects:
tuberous sclerosis complex
genotype
phenotype
children
Chinese
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00204/full

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